Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder

• Glavni autori: Chih-Ping Chen (Autor), Shuan-Pei Lin (Autor), Chung-Lin Lee (Autor), Schu-Rern Chern (Autor), Peih-Shan Wu (Autor), Yen-Ni Chen (Autor), Shin-Wen Chen (Autor), Wayseen Wang (Autor)
• Format: Knjiga
• Izdano: Elsevier, 2017-02-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Objective: We present recurrent 2q13 microduplication in a family with autism spectrum disorder (ASD), intellectual disability, and liver disorder. Case Report: A 45-year-old woman and her 52-year-old husband were referred for genetic counseling because of mental and liver disorders in their two son...