Paediatrics
Paediatrics

Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease

Mol Biol Rep. 2024 Mar 29;51(1):468. doi: 10.1007/s11033-024-09410-y. ABSTRACT BACKGROUND: Congenital heart disease (CHD) is the most prevalent developmental defect and principal cause of infant …

Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort

JAMA Netw Open. 2024 Mar 4;7(3):e244113. doi: 10.1001/jamanetworkopen.2024.4113. ABSTRACT IMPORTANCE: The reported phenotypes of men with 47,XXY and 47,XYY syndromes include tall stature, multisystem comorbidities, …