Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome.

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.

Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Challenges in managing pediatric heart failure, especially in resource-limited settings.

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

Fetal Rapid Eye Movement Sleep Dysfunction as a Potential Early Indicator for NALCN-Related CLIFAHDD Syndrome: A Case Report.

[Analysis of a child with You-Hoover-Fong syndrome due to compound heterozygous variants of the TELO2 gene and a literature review].

[Van Wyk-Grombach syndrome as a result of late diagnosis of autoimmune thyroiditis (ait) in a patient with chromosome 22 deletion syndrome. Description of the clinical case and a brief review of the literature].

Acute Coronary Syndromes in Premenopausal Women: A Scientific Statement From the American Heart Association.

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

Influence of Technical Performance Score on Outcomes After Tetralogy of Fallot Repair in a Low-Middle-Income Country.

Prevention of Respiratory Infections in Children with Congenital Heart Disease: Current Evidence and Clinical Strategies.

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Platypnea-Orthodeoxia Syndrome Revealing an Undiagnosed Patent Foramen Ovale: A Case Report.

Lutembacher's syndrome presenting in the third trimester: a multidisciplinary challenge in a low-resource setting.

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Management of hypoparathyroidism during pregnancy following late maternal diagnosis of DiGeorge syndrome: a case report.

Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

Case Report: The case of atypical OAPS complicated by positive anti-SSA and anti-SSB antibodies.

Challenges in Managing a Congenital Strangulated Bochdalek Hernia in an Older Female Patient in a Low-Income Country: A Case Report.

Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report.

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

Case report: Diagnosis of a double aortic arch in the primary care setting.

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

Sternotomy healing by secondary intention in a complex single ventricle patient after stage 1 palliation.

Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant.

Volume Loading May Compromise Left Ventricular Filling in Patients with a Borderline Hypoplastic Left Ventricle.

Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3.

A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.

Incidence and multisystem preadolescent complications of Turner syndrome: a nationwide study.

Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.

Approach to prolonged QT interval in paediatric and neonatal patients.

De novo truncating variant in the FBRSL1 gene caused neurodevelopmental disorders, epilepsy, congenital heart disease, and facial dysmorphism.

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum.

Are NONO variants linked to congenital heart disease? Patient reports and review.

Door-to-Balloon Time Delay in Complex Primary Angioplasty: A Case of Anomalous Origin of the Right Coronary Artery From the Pulmonary Artery (ARCAPA).

Barth syndrome: Natural history in infants and young children.

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification.

Comprehensive prenatal and postnatal analysis of 22q11.2 microdeletion syndrome: a single-center study.

Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome.

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Myocardial Infarction in a Young Adult: A Rare Case of Left Coronary Artery Arising from the Pulmonary Artery.

Surgical repair of Laubry-Pezzi syndrome with aortic root dilatation in two adult patients: Case reports from Benin.

Parietal Lobe Epilepsy Associated With 2q13 Duplication: Expanding the Neurogenetic Spectrum.

Noonan Syndrome With Complex Pulmonary Stenosis at High Altitude: Impact of Delayed Diagnosis.

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies.

Amplitude-Integrated/Continuous Electroencephalography for Early Detection of Low Cardiac Output After Chest Closure in an Infant.

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

Routine Primary Sternal Closure After the Norwood Procedure.

The deficiency of DIP2C leads to congenital heart defects in patients with 10p15.3 microdeletion syndrome.

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

Sternal opening width is associated with increased risk for capillary leak syndrome and death in neonates and infants after cardiac surgery with delayed sternal closure.

Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome.

Surviving trisomy 18: A case report of a 5-year-old girl.

A change of heart: the evolution of care for children with Trisomy 21 and CHD.

Dandy-Walker Syndrome and Congenital Heart Defects in a Child: A Case Report.

Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study.

A 25-year single-center study on Kawasaki disease in the Polish population: Insights into long-term outcomes and coronary complications.

Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.

Technical considerations and long-term outcomes of successful one-stage repair of Berry syndrome in a preterm neonate using deep hypothermic circulatory arrest: A case report.

Extremely Rare Neonatal Case With Pyloric Atresia, Heart Defects, Hypotonia, Jaundice, and Acidosis.

Expanding the phenotypic spectrum of Beaulieu-Boycott-Innes syndrome: A case report of a novel THOC6 gene mutation associated with ambiguous genitalia and disorders of sexual development.

mRNA Expression to Assess Hypoxia and Angiogenesis in Decidual Tissue of Term Fetuses With a Congenital Heart Disease.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Snijders Blok-Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report.

The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.

Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders.

[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review].

Fork Stalling and Template Switching in a Complex der(6)dn with Duplication of 6q24.3qter and 6p25.3: A Case Report.

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review.

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations.

ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndrome.

Rehabilitation in a child with Chiari II malformation, lumbosacral meningomyelocele, achondroplasia and impaired respiratory regulation - a case report and literature review.

CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.

[Clinical and genetic investigation of 4 children with microdeletion KBG syndrome].

Congenital Rubella Syndrome in the Post-Elimination Era: Why Vigilance Remains Essential.

"Bubbly heart," a case report of Morgagni hernia delayed diagnosis in patient with Down syndrome: The hernia is in the details.

Acquired feeding difficulties in infants after on-pump cardiac surgery: A single-center retrospective cohort study.

Variable expressivity of a transmitted pathogenic KAT6B variant.

Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

A new association between Kleefstra syndrome and Panayiotopoulos epilepsy.

[Clinical analysis of a child with heterotopic ventricular gray matter Renpenning syndrome caused by PQBP1 gene mutation and a literature review].

Outcomes and Predictors of Failure of Systemic-to-Pulmonary Shunts: Experience of a Single Institution Over 14 Years.

Short-Term Results of Early Detection of Critical Congenital Heart Disease: The Peruvian Maternal Perinatal Experience.

Outcomes of pediatric mild sleep-disordered breathing.

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult - case report.

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

The Timing and Factor of Ductus Arteriosus Closure in Infants with Down Syndrome Born at Term and Late-Preterm.

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

131-Radioiodine Therapy for Graves Disease in a Patient With Down Syndrome and Non-operable Congenital Heart Disease.

Complete Atrioventricular Septal Defect Repair in Patients With Down Syndrome Presenting Beyond Six Months- A Single Center Experience.

Congenital heart disease presentations in the 15q11.2 microdeletion syndrome.

Turner syndrome: the promise of fertility via stem cell technology.

Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.

High Altitude May Protect Against the Early Development of Irreversible Pulmonary Hypertension in Patients With Congenital Heart Disease.

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Delayed Diagnosis of Partial Anomalous Pulmonary Venous Return in an Adult With Pulmonary Hypertension.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Prevalence, Risk Factors, and Outcomes of Hospital-Acquired Infections in Children After Congenital Heart Surgery.

Neonatal lupus erythematosus: an acquired autoimmune disease to be taken seriously.

Neonatal lupus erythematosus presenting with congenital heart block: clinical characteristics and follow-up.

[Clinical features of CHARGE syndrome in children].

De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.

Maternal Phenylketonuria: Consequences of Dietary Non-Adherence and Gaps in Preconception Care-A Case Report.

[Duplication of the X-chromosomal Xq28 region containing the MECP2 gene in X-linked intellectual disability syndrome Lubs-type].

Establishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B gene.

Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 -Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.

Evaluation of Integrated Service Strategy Based on Diagnosis of Duct-Dependent Congenital Heart Disease and Neonatal Mortality Data Analysis - Beijing, China, 2021-2022.

Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges.

Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants.

Peripandemic outcomes of infants treated for sentinel congenital heart diseases in England and Wales.

A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.

Neurodevelopmental Outcomes After Nitric Oxide During Cardiopulmonary Bypass for Open Heart Surgery: A Randomized Clinical Trial.

Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.

Cerebral Microhemorrhages in Children With Congenital Heart Disease: Prevalence, Risk Factors, and Association With Neurodevelopmental Outcomes.

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.

Comorbidities and Healthcare Utilization Among Young Adults With Congenital Heart Defects by Down Syndrome Status-Congenital Heart Survey to Recognize Outcomes, Needs, and wellbeinG, 2016-2019.

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.

Neurodevelopmental outcomes after infant heart surgery for congenital heart disease: a hospital-based multicentre prospective cohort study from India.

Jacobsen syndrome associated with Shone's complex: a case report.

[Growth and development patterns of Noonan syndrome and advances in the treatment of short stature].

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Maternal autoimmune systemic connective tissue disease and vasculitis and electrocardiographic findings in the offspring.

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

Double Outlet Right Ventricle: A Rare Finding in a 15-Month-Old Female With Failure to Thrive.

[DiGeorge syndrome with 22q11.2 deletion in a patient of Rarámuri ethnicity].

Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic  reassessment of treatment-refractory short stature.

Surgical treatment experience of seven cases of Berry syndrome.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.

Novel risk predictor of arrhythmias for patients with potassium channel-related congenital long QT syndrome.

Transcatheter intervention of modified Blalock-Taussig shunts in patients with hypoplastic left heart syndrome undergoing stage 1 palliation.

MGA-related syndrome: A proposed novel disorder.

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.

Antidepressant exposure patterns during pregnancy and risk of adverse newborn outcomes.

Motor proficiency in school-aged children with CHD.

Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

20p chromosome inverted duplication syndrome with phenotypes of congenital heart disease, anorectal malformation and megacolon.

Accidental finding of ALCAPA in a child with severe mitral regurgitation: A case study.

Uncommon presentation: monozygotic twins with Turner syndrome.

Successful Anesthetic Management of a Pediatric Patient With Wolf-Hirschhorn Syndrome Undergoing Strabismus Surgery: A Case Report.

Impact of Persistent Pulmonary Hypertension of the Newborn in Neonates with Dextro-transposition of the Great Arteries.

Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.

Comparing Parent Perception of Neurodevelopment after Primary versus Staged Repair of Neonatal Symptomatic Tetralogy of Fallot.

Validation of a Paralimbic-Related Subcortical Brain Dysmaturation MRI Score in Infants with Congenital Heart Disease.

Bronchial Atresia with Eisenmenger Syndrome in a Complex Congenital Heart Disease-A Rare Coexistence: A Case Report.

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.

"An update on the approach to treatment of Sjogren's Disease in pregnancy".

Biventricular Hypertrophic Cardiomyopathy in a 26-year-old Nigerian Woman with Noonan Syndrome.

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report.

Exposure of Pregnancy to Pregestational Diabetes, Gestational Diabetes, and Antidiabetic Medications With Especial Focus on Major Congenital and Cardiac Malformations in Offspring.

Missed opportunity in acute coronary syndrome.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

A Rare Genetic Intersection: Down Syndrome With Coexisting Spinal Muscular Atrophy.

Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.

Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature.

Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.

A nationwide survey of Vici syndrome in Japan.

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.

Septal Defects: Unveiling Sex-Based Disparities and Screening Challenges for Timely Intervention Through a Case Report and Systematic Literature Review.

A case report of spastic diplegic cerebral palsy in a late preterm child with hypoplastic left heart syndrome.

SMC3 contributes to heart development by regulating super-enhancer associated genes.

Placenta histology related to flow and oxygenation in fetal congenital heart disease.

Multidisciplinary Velopharyngeal Dysfunction Evaluation Helps Detect Non-classic Cases of 22q11.2 Deletion.

Infant of a diabetic mother: clinical presentation, diagnosis and treatment.

Beneficial normalization of cardiac repolarization by carnitine in transgenic short QT syndrome type 1 rabbit models.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome.

First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review.

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Primary surgical repair of tetralogy of fallot at the Uganda Heart Institute: a ten-year review of 30day mortality and morbidity.

Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome.

How do we treat severely prolapsed true ectopia cordis?