Results 161 to 170 of about 49,640 (282)

Discordant imaging findings in dizygotic twins with known exposure to maternal ZIKV infection during initial stages of pregnancy. [PDF]

IDCases
Adami-Teppa F, Marquez M, Escalona-Rodriguez MA, Blohm GM, Ascanio LC, Sordillo E, Lednikcy JA, Paniz-Mondolfi AE.   +7 more
europepmc   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1465-1478, July 2026.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis. [PDF]

Mol Genet Genomic Med
Assing DL, Jolly DE, Gluschitz S, Nelson B, Li D, Bhoj EJ, Nomakuchi TT, Sobering AK.   +7 more
europepmc   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1491-1497, July 2026.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Rare Genetic Diseases with Founder Effect in Roma Children. [PDF]

Life (Basel)
Drobňaková S, Andrejková M, Šaligová J, Potočňáková Ľ, Vargová V, Kuchta M, Beňačka R, Barkai L.   +7 more
europepmc   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1696-1701, July 2026.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

DIAPH1 regulates the Wnt/β-catenin pathway resulting in microcephaly and visual impairment. [PDF]

BMC Med Genomics
Wang D, Lai P, Wang K, Wu Z, Li X.
europepmc   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

<i>TRMT10A</i>-Related Neurodevelopmental Disorder Without Metabolic Findings. [PDF]

Hum Mutat
Ülker Üstebay D, Aksu Şahin İ, Üstebay S, Ünsel Bolat G, Bolat H.   +4 more
europepmc   +1 more source