Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Fernanda A CorreaAlexander Al JorgeMarilena NakagumaAna Pm CantonSilvia S CostaMariana F FunariAntonio M LerarioMarcela M FrancaLuciani R CarvalhoAna Cv KrepischiIvo Jp ArnholdCarla RosenbergBerenice B Mendonca

Published in: Clinical endocrinology (2018)

Copy number variants explained the phenotype in 8% of patients with hypopituitarism and additional complex phenotypes. This suggests that chromosomal alterations are an important contributor to syndromic hypopituitarism.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
intellectual disability
autism spectrum disorder