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

• Egile Nagusiak: Yi-Jie Lin (Egilea), Che-Sheng Ho (Egilea), Chyong-Hsin Hsu (Egilea), Ju-Li Lin (Egilea), Chih-Kuang Chuang (Egilea), Jen-Daw Tsai (Egilea), Nan-Chang Chiu (Egilea), Hsiang-Yu Lin (Egilea), Shuan-Pei Lin (Egilea)
• Formatua: Liburua
• Argitaratua: Elsevier, 2017-02-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...