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Novel ATP7A gene mutation in a patient with Menkes disease

BACKGROUND: Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities. CASE PRESENTATION: We describe an infant with developmental delay,...

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Detalles Bibliográficos
Autores principales:	Caicedo-Herrera, Gabriela, Candelo, Estephania, Pinilla, Juan, Vidal, Andrés, Cruz, Santiago, Pachajoa, Harry Mauricio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove Medical Press 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254535/ https://www.ncbi.nlm.nih.gov/pubmed/30538525 http://dx.doi.org/10.2147/TACG.S180087

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