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

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

<p>Abstract</p> <p>Background</p> <p>Deletions and duplications of the <it>PAFAH1B1</it> and <it>YWHAE</it> genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of <it>PAFAH1B1</it> causes isolat...

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Bibliographic Details
Main Authors: Capra Valeria, Mirabelli-Badenier Marisol, Stagnaro Michela, Rossi Andrea, Tassano Elisa, Gimelli Stefania, Gimelli Giorgio
Format: Article
Language:English
Published: BMC 2012-10-01
Series:BMC Medical Genetics
Subjects:
Familial 17p13.3 duplication syndrome
<it>PAFAH1B1</it> and <it>YWHAE</it> genes
Array-CGH
Online Access:http://www.biomedcentral.com/1471-2350/13/93

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http://www.biomedcentral.com/1471-2350/13/93

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