A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease

• Main Authors: Yi-Jie Lin (Author), Che-Sheng Ho (Author), Chyong-Hsin Hsu (Author), Ju-Li Lin (Author), Chih-Kuang Chuang (Author), Jen-Daw Tsai (Author), Nan-Chang Chiu (Author), Hsiang-Yu Lin (Author), Shuan-Pei Lin (Author)
• Format: Book
• Published: Elsevier, 2017-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. Deficiency in copper-dependent enzymes results in the unique kinky hair appearance, neurodegeneration, developmental delay, seizures, failure to thrive and other connective tissue or organ abnormalities. Other tha...