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

• Päätekijät: Chih-Ping Chen (Tekijä), Shuan-Pei Lin (Tekijä), Chung-Lin Lee (Tekijä), Schu-Rern Chern (Tekijä), Peih-Shan Wu (Tekijä), Yen-Ni Chen (Tekijä), Shin-Wen Chen (Tekijä), Wayseen Wang (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Elsevier, 2017-02-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...