Article
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
BMC medical genetics - 4 Oct 2012
Capra Valeria, Mirabelli-Badenier Marisol, Stagnaro Michela, Rossi Andrea, Tassano Elisa, Gimelli Stefania, Gimelli Giorgio
Abstract excerpt
BACKGROUND: Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.