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

• Main Authors: Capra Valeria (Author), Mirabelli-Badenier Marisol (Author), Stagnaro Michela (Author), Rossi Andrea (Author), Tassano Elisa (Author), Gimelli Stefania (Author), Gimelli Giorgio (Author)
• Format: Book
• Published: BMC, 2012-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...