Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.

Ectopic ACTH-dependent Cushing syndrome due to mature ovarian teratoma.

Diagnostic challenges of Cushing's syndrome in pregnancy.

[Analysis of a child with Osteo-oto-hepato-enteric syndrome and a literature review].

Single-Stage Bilateral Hip Reconstruction for Kabuki Hip Dysplasia in a Four-Year-Old: A Case Report.

Blunt Trauma-Induced Chylothorax in Noonan Syndrome: A Rare Clinical Presentation.

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Blau syndrome with atrophoderma vermiculata-like appearance: a case report.

Leonine Facies in Sézary Syndrome.

Bardet-Biedl syndrome in two sibling pairs: a case series.

[Genetic analysis of a Chinese pedigree affected with Isolated growth hormone deficiency due to variant of CHRHR gene].

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Patient-Reported Speech Outcomes in Patients with Beckwith-Wiedemann Syndrome.

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Arteriopathies: Too big to be true.

VPS13B, gene responsible for Cohen syndrome, regulates gingival epithelial barrier function via intracellular trafficking of coxsackievirus and adenovirus receptor.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.

[Update on salivary gland surgery].

Iatrogenic Cushing's Syndrome and the Hidden Ingredient of Artri King.

[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].

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL.

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Unmasking Wiskott-Aldrich Syndrome in Adulthood in a Case of Long-Standing Bleeding, Infections, and Steroid-Induced Morbidity.

Preserving renal function in Ochoa syndrome: augmentation cystoplasty in an adolescent with neurogenic bladder.

Sagittal Craniosynostosis Associated With Chromosome 16p13.3 Duplication.

A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation.

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.

Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers.

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Giant Uterine Fibroid Complicated by Abnormal Erythrocytosis in a 33-Year-Old Woman: A Case Report.

Prolonged Tardive Dyskinesia Induced by Long-Acting Paliperidone Palmitate in Schizophrenia: A Case Report.

Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels.

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion.

Hepatic Glycogenosis Resulting in Hyperammonemia in a Young Adult With Type 1 Diabetes Mellitus.

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.

P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.

The Lived Experience of Facial Paralysis: Impact of Etiology on Patient Perceptions.

Prader-Willi syndrome: A rare genetic disorder with complex clinical manifestations.

Pseudohypoaldosteronism type II: The Relevance of A Challenging Diagnosis.

Anesthetic Management of a Patient With Myhre Syndrome.

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

Signal mining of botulinum toxin type A adverse events based on FAERS database and its implications for the treatment of cerebral palsy.

Pediatric Adrenocortical Carcinoma Presenting With Virilization: A Case of a Low-Grade Tumor in a Young Child.

Rare co-existence of 15q26 deletion syndrome and lymphangioleiomyomatosis: diagnostic and therapeutic challenge.

Heart failure caused by Opitz syndrome: a case report and literature review.

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Increased risk for severe peripheral arterial disease in Kabuki syndrome.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

3M syndrome in Saudi Arabia: a case series study and literature review.

POEMS syndrome complicated by portal hypertension resembling decompensated cirrhosis: a case report and diagnostic insights.

Transcription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.

Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome.

The herculean illusion: congenital hypothyroidism masquerading as muscular dystrophy.

Optic nerve changes in PTPN11-related Noonan syndrome.

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.

An unusual presentation of longstanding atrophic Hashimoto's thyroiditis: challenges in a resource-limited setting.

Craniofacial fibrous dysplasia: Long-term postoperative outcomes in a retrospective case series with up to 40 years of follow-up.

Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.

In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.

The Face of Excess Cortisol: Clinical and Morphologic Insights Into Cushing Syndrome.

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.

A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome.

Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Aesthetic and Functional Outcomes After Superficial Parotidectomy - Comparison of Three Reconstruction Techniques: An Interventional Clinical Study.

Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome.

A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Increased Weight Loss With the Combination of Levoketoconazole and Semaglutide in a Patient With Mild Hypercortisolism.

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.

Adrenal oncocytoma: an unusual etiology of Cushing's syndrome in an adolescent female.

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.

Clinical and Oral Manifestations in a Patient with Lenz-Majewski Syndrome: A Rare Case Report.

HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features.

Clinical features, pathophysiological mechanisms, and multidisciplinary management strategies for rhinitis-induced adenoid facies in children and adolescents: a review.

A protocol for measuring phenotypical facial disease markers in a mouse model of iatrogenic Cushing's syndrome.

Topical Glucocorticoid-Induced Cushing's Syndrome in a Patient with Erythrodermic Psoriasis: A Case Report.

NICTH with secondary acromegaloid changes and severe hypoglycemia due to potentially insulin-like growth factor-2 mediated effects.

Adrenal Insufficiency after Steroid Therapy in Children with Steroid-Sensitive Nephrotic Syndrome: A Cross-sectional Study.

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

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

A Genetically Confirmed Case of ATR-X Syndrome Without Alpha-Thalassemia: First Case Reported From Jordan.

Challenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate.

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.

Beyond the face: multidimensional care challenges and unmet needs in Hemifacial Microsomia families.

Bardet-Biedl syndrome: a rare cause of end-stage kidney disease. Case report.

The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia.

Comparison of secondary surgery before and after centralisation of cleft services in the UK: a whole-island cross-sectional analysis.

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

A case of transient abnormal myelopoiesis with trisomy 21, tetrasomy 21, and trisomy 19.

The Diagnostic and Therapeutic Challenges of Schaaf-Yang Syndrome: A Brazilian Case Report.

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association.

Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.

ZEB2: a multifunctional regulator of neural injury repair.

Complex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion.

[A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of the UBE2A gene: a case report and literature review].

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

The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype.

Werner syndrome due to homozygous WRN mutation through chromosome 8 region of homozygosity in a consanguineous family.

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Factors associated with motor manifestations in older adults with Alzheimer's dementia: a cross-sectional analysis.

Silver-Russell syndrome: phenotype features and oral health status.

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

Galectin-10 Characterization in Cleft Lip Palate - Affected Palatal Tissue.

Occurrence and outcomes of retrobulbar haematoma in 2149 orbital fracture patients.

Tcf4 Deficiency causes recurrent seizures in mice.

Delineating the Cognitive Profile of ODLURO Syndrome: Emergent Clues on the Endophenotype Across KMT2 Disorders.

Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.

Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.

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

Special considerations for international weight standards for cleft surgery: presurgical optimisation in a patient with femoral-facial syndrome.

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.

A Clinical Study of Nine Patients With ReNU Syndrome.

Foveal hypoplasia in Myhre syndrome: a novel association.

Lower labial vermilion myomucosal flap for commissuroplasty of Tessier 7 transverse facial cleft.

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?

A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant.

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

Patient-Specific surgical management of a triad of TMJ ankylosis, micrognathia, and obstructive sleep apnea: A case report.

Chromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections.

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job.

Using long-read sequencing to detect and subtype a case with Temple syndrome.

A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone Deficiencies.

Variable expressivity of a transmitted pathogenic KAT6B variant.

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.

Fibrofolliculomas in Birt-Hogg-Dubé syndrome treated with a CO2 and dye laser combination: a case report and literature review.

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

Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene.

Alteration of Hair Melanin in Patients With Mowat-Wilson Syndrome: The Role of the ZEB2 Gene in Regulating Melanogenesis Through SLC45A2.

Therapeutic Options for the Prevention of Thromboses in Cushing's Syndrome: A Propensity-Matched, Retrospective Cohort Analysis.

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

[Genetic analysis of a case of Miller-McKusick-Malvaux syndrome type 1 caused by CUL7 gene variant and a literature review].

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

A "Smurf-Cap" head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida.

[Clinical feature and genetic analysis of a case of X-linked alpha-thalassemia mental retardation syndrome neonate caused by ATRX gene variant and literature review].

Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India.

Pigmentary glaucoma in a patient with 48,XXYY syndrome.

Effect of electrical stimulation in conjunction with mirror therapy and massage to decrease synkinesis in a patient with chronic Ramsay Hunt Syndrome: a case report.

Quantitative T1 Mapping Indicates Elevated White Matter Myelin in Children With RASopathies.

NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes.

Expectations and the Patient-Doctor Relationship: Ethical Considerations in a Case of Triploidy.

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

Neuropathologic Findings in Mowat-Wilson Syndrome at Autopsy, Including a Suprasellar Spindle Cell Lipoma.

[Ring chromosome 21 syndrome: report of 2 cases].

The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.

Kabuki Syndrome With Cardiac Manifestations: A Case Report and Mini-Literature Review From the United Arab Emirates (UAE).

Lamellar cataract in a child with Alagille syndrome.

Iatrogenic Cushing Syndrome and Secondary Adrenal Insufficiency in a Child due to Topical Ocular Corticosteroids: A Case Report.

Dentofacial Findings and Management of two Pediatric Patients With Bainbridge-Ropers Syndrome: A Case Report.

Current surgical outcomes of free functional muscle transfer for Volkmann's ischemic contracture: A scoping review.

Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.

Dog-related eponyms in dermatology: A tribute to man's best friend.

Etiology and clinical features of Han Chinese patients with Duane retraction syndrome.

A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.

Trifid Epiglottis with Midline Cleft Lip: A Rare Craniofacial Anomaly-First Case Report.

RASopathies and Cardiac Complications: Insights into Mechanisms, Diagnosis, and Innovative Treatments.

Extended Growth Curves for the Wolf-Hirschhorn Syndrome (4p-).

A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation.

Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10-Related Neurodevelopmental Disorder.

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.

Clinical predictors for perioperative anticipated and unanticipated difficult intubation: a matched case-control study.

Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.

A Rare Case of Unilateral Congenital Asymmetric Crying Facies in a Neonate: Case Report.

A Novel KMT2E Splicing Variant as a Cause of O'Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype.

A Rare Case of PRKACA Duplication-Associated Childhood-Onset Primary Pigmented Nodular Adrenocortical Disease.

Autism spectrum disorder and 3p24.3p23 triplication: a case report.

Commentary - Mowat-Wilson Syndrome in Hirschsprung: Something Special or Just a Generic Problem?

Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.

Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.

Tethered cord syndrome in a paediatric patient with KBG syndrome.

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice.

Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder.

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.

Harlequin syndrome in a young patient with osteosarcoma after pleural metastasectomy: A case report and a mini review of the literature.

Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.

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.

KBG syndrome: report and follow-up on three unrelated patients observed at different ages.

Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models.

ZEB2 Gene Pathogenic Variants Across Protein-Coding Regions and Impact on Clinical Manifestations: A Review.

Co-Occurrence of Sotos Syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in 2 Patients.

Clinical Characteristics and Postoperative Functional Outcomes in Children With Mowat-Wilson Syndrome and Hirschsprung's Disease: A Single-center Study.

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.

Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.