Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Capra, Valeria, Mirabelli-Badenier, Marisol, Stagnaro, Michela, Rossi, Andrea, Tassano, Elisa, Gimelli, Stefania, Gimelli, Giorgio
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2012
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3495055/
https://ncbi.nlm.nih.gov/pubmed/23035971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-93
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