Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis.

Primary NOS carcinoma arising in a lingual ectopic thyroid: diagnostic strategy and multidisciplinary management.

Multi-omics investigation of thyroid development and dysfunction in down syndrome.

Case report of breastfeeding after maternal iodine contrast: neonatal hypothyroidism revealing an underlying congenital disorder.

Lingual and Cervical Ectopic Thyroid: A Case Report and Literature Review.

Co-existence of Congenital Hypothyroidism (CH) and TBG-Excess in a Boy Causing Simultaneous Elevation in Thyroid Stimulating Hormone (TSH) and Thyroxine (T4) Levels: First Report from India and Review of the Literature.

Comparative Analysis of Hyperbilirubinemia Between Congenital Hypothyroidism and Euthyroidism in Neonates in Rawalpindi, Pakistan.

Endocrine Hypertension: The Role of Imaging in Diagnosis and Management.

[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].

Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.

Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism.

Correlations between maternal illnesses and congenital malformations of the kidney and urinary system in offspring: A cohort study.

A Healthy Pregnancy During Treatment of Metastatic Melanoma with Immune Checkpoint Inhibitors: A Case Report.

Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.

Hypothyroidism in spontaneous coronary artery dissection: presentation, clinical and angiographic findings, management and outcomes.

Hashimoto's thyroiditis and congenital long QT syndrome: a dangerous addition causing torsades-case report.

A rare case of mosaic monosomy 21 in a Moroccan patient: clinical findings and insights from a systematic review.

ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

Aeromedical evaluation and successful return to flight in a military pilot with lingual thyroid: a case report and follow-up.

Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?

Clinical and genetic characterization of Weaver syndrome: A case report of an EZH2 mutation and review of the literature.

Perinatal Factors Associated With Congenital Hypothyroidism in Very Low Birth Weight Infants: A Retrospective Cohort Study.

Thyroid Hormone Deficiency Disrupts Embryonic Ventral Body Wall Development and Myogenesis With Partial Recovery Following LevothyroxineTherapy.

Newborn Screening of the Endocrine System: Best Practices for Evaluation of Hypothyroidism and Congenital Adrenal Hyperplasia.

Dominant-negative effects of Weaver syndrome-associated EZH2 variants.

Comorbidity and Multimorbidity in Adults With Congenital Heart Disease: Findings From a Multi-Site Population-Based Study.

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.

Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options.

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.

LINE-1 transposition into murine Thyroglobulin results in congenital thyroid dysplasia.

Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.

Pituitary Stalk Interruption Syndrome: A Case Series.

Functional Noncoding Variants in a TTTG Microsatellite on Chromosome 15q26.1 Are a Common Genetic Etiology of Congenital Hypothyroidism with Thyroid Gland in situ.

Variable expressivity of a transmitted pathogenic KAT6B variant.

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

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

Micro-nutrient sufficiency in mothers and babies: management of deficiencies while avoiding overload during pregnancy.

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

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

Respiratory and airway disorders in children with Down Syndrome: a review of the clinical challenges and management.

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

A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.

Pseudohypoparathyroidism: Challenges in Early Recognition and Diagnosis of a Rare Hereditary Disorder.

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.

Minimally Humanized Ezh2 Exon-18 Mouse Cell Lines Validate Preclinical CRISPR/Cas9 Approach to Treat Weaver Syndrome.

Assessing Environmental Risks Factors in Anorectal Malformations: Case Report and Literature Review.

Maternal and Neonatal Factors Associated with Delayed Closure of Ductus Arteriosus in Term-Born Neonates: Insights from the Copenhagen Baby Heart Cohort Study.

Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.

Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.

The effect of cardiac catheterization on thyroid functions in infants with congenital heart diseases: a prospective observational study.

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.

Feasibility of clinical newborn metabolic screening in a high-volume maternity center in Nepal.

Hydrocephalus in Sanajd Sakati syndrome: a first clinical report.

The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders.

Deciphering the mystery of CHNG3.

Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.

Fifteen-minute consultation: How to manage neonatal bradycardia.

Brain Abnormalities in Young Single- and Double-Heterozygote Mice for Both Nkx2-1- and Pax8-Null Mutations.

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).

Updated review on pulmonary arterial hypertension: Differences between down syndrome and non-down syndrome populations.

Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective national cohort study.

Psychological Assessment of Mothers of Indian Children with Differences of Sex Development.

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

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Frequency of seropositive celiac disease and hypothyroidism among children and adolescents with congenital heart disease: A case-control study.

Dual challenge inside the womb: a case report of concomitant fetal atrio-ventricular block associated with maternal anti-SSA antibodies and fetal tachyarrhythmia diagnosed as Wolff-Parkinson-White syndrome after birth.

Pituitary deficiencies related to optic nerve hypoplasia and visual acuity.

Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Clinical Course of Congenital Hypothyroidism With Gland In Situ and Necessity of L-Thyroxine Therapy After Re-evaluation.

Maternal diseases and congenital anomalies of the kidney and urinary tract in offspring: a cohort study.

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.

Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.

Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.

Was the massive increase in use of teratogenic agrichemicals in western states (USA) associated with declines in wild ruminant populations between 1994 and 2013?

Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.

TAF1 is needed for the proliferation and maturation of thyroid follicle cells via Notch signaling.

Identification of Eukaryotic Translation Initiation Factor 4B as a Novel Candidate Gene for Congenital Hypothyroidism.

Congenital Hypothyroidism with Thyroid in situ: A Case Report with NKX2-1 and DUOX2 Hypomorphic Variants.

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.

Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism.

Ectopic lingual thyroid with subclinical hypothyroidism in children.

Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.

Normal intellectual ability and hyperprolactinemia as unique clinical manifestations of congenital hypothyroidism: A case report and review of hypotheses.

Impact of obstructive sleep apnoea on cardiovascular outcomes and mortality in young adults with congenital heart anomalies: insights from the national inpatient sample (2019).

SPONTANEOUS CORONARY ARTERY DISSECTION: CASE REPORTS OF THREE TYPES OF DISSECTION.

Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records.

11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report.

Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.

Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.

De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.

Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.

A French nationwide study compared various conditions and healthcare use of individuals < 65 years with a Down's syndrome to those without.

[A case of congenital hypothyroidism and Turner syndrome.].

A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.

Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures.

Two Cases of Congenital Hypothyroidism Revealing Thyroid Agenesis.

Congenital hypothyroidism and thyroid function in a Japanese birth cohort: data from The Japan Environment and Children's Study.

Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.

Analysis of genetic variability in Turner syndrome linked to long-term clinical features.

Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.

Clinical heterogeneity of polish patients with KAT6B-related disorder.

A Case-Control Study of the Relationship Between Genetic Polymorphism and Cretinism in Xinjiang.

Molecular investigation of TSHR gene in Bangladeshi congenital hypothyroid patients.

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia.

Congenital hypothyroidism in Bogotá, Colombia: a current description (2015-2021).

Cerebral Cortical Thickness Morphometry and Neurocognitive Correlations in Adolescents With Congenital Hypothyroidism.

A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.

Assessment of Neurodevelopment and Growth in Congenital Hypothyroidism: Serial 6-Year Follow-up Study of 408 Patients.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

High Time to Consider the Role of Thyroid Function in Single Ventricle Heart Disease.

Investigation and Management of Recurrent Pregnancy Loss: A Comprehensive Review of Guidelines.

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report.

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.

Assessment of Otoacoustic Emissions (OAE) in Birth Asphyxiated Neonates.

The Effect of Hormone Replacement Treatment on Hearing Function in Hypothyroid Patients.

Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems.

Prospective study of thyroid function in the first year of life in infants with Down syndrome.

Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.

Thyroid function, sensitivity to thyroid hormones, and metabolic syndrome in euthyroid children and adolescents with Down syndrome.

The Relationship Between Hypothyroidism and Cardiac Findings in Children With and Without Down Syndrome.

Impaired Maternal-Fetal Environment and Risk for Preoperative Focal White Matter Injury in Neonates With Complex Congenital Heart Disease.

Thyroid Disorders and Movement Disorders-A Systematic Review.

Medical Management of Dental Abnormalities Related to Congenital Hypothyroidism in a Cat.

Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.

Case report: A reciprocal translocation-free and pathogenic DUOX2 mutation-free embryo selected by complicated preimplantation genetic testing resulted in a healthy live birth.

[Pathogenic TSHR variants in children with thyroid dysgenesis].

Congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism.

The Italian registry for patients with Prader-Willi syndrome.

De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism.

Lissencephaly with Congenital Hypothyroidism: A Case Report.

[Thyrotoxicosis in a patient with Turner syndrome: radioactive iodine therapy].

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

[Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene].

Clinical and genetic investigation in patients with permanent congenital hypothyroidism.

Multivessel spontaneous coronary artery dissection: Clinical features, angiographic findings, management, and outcomes.

Meta-Analysis of DNA Methylation Datasets Shows Aberrant DNA Methylation of Thyroid Development or Function Genes in Down Syndrome.

Clinical survey of current practice regarding treatment of children with borderline thyroid abnormalities.

DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities.

A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities.

Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study.

Approach to the Patient With Congenital Hypothyroidism.

Laryngeal myxedema as a cause of reversible subglottic stenosis in a newborn.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

The prevalence of hypothyroxinemia in premature newborns.

Patent ductus arteriosus in a late preterm neonate: think congenital hypopituitarism.

A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.

GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report.

[Ectopic thyroid gland: clinical features and diagnostics in children].

Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience.

Impact of clinical research on public health policy of neonatal screening for congenital heart disease in China.

A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.

Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.

Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review.

Congenital Anomalies in Infant With Congenital Hypothyroidism: A Review of Pathogenesis, Diagnostic Options, and Management Protocols.

Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood.

Maintaining the thyroid gland in mutant thyroglobulin-induced hypothyroidism requires thyroid cell proliferation that must continue in adulthood.

A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.

GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.

[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].

Thyroid Abnormalities in Heart Failure.

Hypothyroidism in Thyroid Hemiagenesis: A Case Report.

[Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia].

Maternal Chronic Disease and Congenital Anomalies of the Kidney and Urinary Tract in Offspring: A Japanese Cohort Study.

Thyroid abnormalities in children with Down syndrome at St. Paul's hospital millennium medical college, Ethiopia.

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.

Clinical outcomes in spontaneous coronary artery dissection.

Case report: Neonatal diabetes mellitus with congenital hypothyroidism as a result of biallelic heterozygous mutations in GLIS3 gene.

Fontan Circulation Associated Organ Abnormalities Beyond the Heart, Lungs, Liver, and Gut: A Systematic Review.

Thyroid Hemiagenesis: Narrative Review and Clinical Implications.

Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.

Dilated cardiomyopathy in a cat with congenital hyposomatotropism.

[Genetic of congenital hypothyroidism].

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.

Evaluation of Weight Gain, Clinicopathological and Radiographic Changes after Early Diagnosis and Treatment of Congenital Hypothyroidism in Cats.

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

Postoperative hyperthermia-induced multiple organ failure in a child with Down syndrome: a case report.

Cytogenetic Patterns, Congenital Heart Disease, and Thyroid Dysfunction in Children with Down Syndrome.

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

Subclinical Hypothyroidism as the Most Common Thyroid Dysfunction Status in Children With Down's Syndrome.

Midterm Outcomes of Heart Transplantation in Children With Genetic Disorders.

Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.

Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.

Prosthodontic Management of Congenital Hypothyroidism with Anodontia: A Case Report.

Guideline for the Treatment of Hypothyroidism in Prematurity.

The Myxedema coma in children and adolescents: A rare endocrine emergency - Personal experience and review of literature.

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.

Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis.

Undetected Long-Term Hypothyroidism Caused by Hashimoto's Thyroiditis with Severe Cardiac Complications - An Unusual Case of Child Neglect.

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.

A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1.

Transoral robotic resection of a lingual thyroid: a novel treatment for obstructive sleep apnoea.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Commentary: Posteromedial Hypothalamic Deep Brain Stimulation for Refractory Aggressiveness in a Patient With Weaver Syndrome: Clinical, Technical Report, and Operative Video.

Physical Growth and Its Determinants in Indian Children with Down Syndrome, from 3 Months to 5 Years of Age.

Is keratoconus associated to thyroid diseases? Assessment of the corneal parameters in patients with congenital hypothyroidism.

Low Adrenomedullary Function Predicts Acute Illness in Infants With Classical Congenital Adrenal Hyperplasia.

Congenital hypothyroidism and thyroid cancer.