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

• Main Authors: Chih-Ping Chen (Author), Shuan-Pei Lin (Author), Chung-Lin Lee (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Yen-Ni Chen (Author), Shin-Wen Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2017-02-01T00:00:00Z.
• Subjects: article
• Online Access: 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...