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

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...

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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.
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3rd Floor Main Library

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Call Number: A1234.567
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