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

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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Bibliographic Details
Main Authors: Yi-Jie Lin, Che-Sheng Ho, Chyong-Hsin Hsu, Ju-Li Lin, Chih-Kuang Chuang, Jen-Daw Tsai, Nan-Chang Chiu, Hsiang-Yu Lin, Shuan-Pei Lin
Format: Article
Language:English
Published: Elsevier 2017-02-01
Series:Pediatrics and Neonatology
Subjects:
ATP7A
copper-histidine
de novo point mutation
Menkes disease
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957214001727

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http://www.sciencedirect.com/science/article/pii/S1875957214001727

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