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

• Auteurs principaux: Chih-Ping Chen (Auteur), Shuan-Pei Lin (Auteur), Chung-Lin Lee (Auteur), Schu-Rern Chern (Auteur), Peih-Shan Wu (Auteur), Yen-Ni Chen (Auteur), Shin-Wen Chen (Auteur), Wayseen Wang (Auteur)
• Format: Livre
• Publié: Elsevier, 2017-02-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...