Results 111 to 120 of about 308,808 (316)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
The Distribution of Subcutaneous Fat in Childhood and Adolescence
, 1950 Earle L. Reynolds, Lester W. Sontag
openalex +2 more sources
Survey of mental illness in adolescence. [PDF]
, 1967 A. S. Henderson +2 more
openalex +1 more source