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

• मुख्य लेखकों: Yi-Jie Lin (लेखक), Che-Sheng Ho (लेखक), Chyong-Hsin Hsu (लेखक), Ju-Li Lin (लेखक), Chih-Kuang Chuang (लेखक), Jen-Daw Tsai (लेखक), Nan-Chang Chiu (लेखक), Hsiang-Yu Lin (लेखक), Shuan-Pei Lin (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2017-02-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...