Infantile neuroaxonal dystrophy caused by uniparental disomy.

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the phospholipase A2 group 6 (Pla2G6) gene. Affected individuals usually present between the ages of 6 months and 2 years with rapid cognitive and motor regression and axial hypoton...

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Detalles Bibliográficos
Main Authors: Solomons, J, Ridgway, O, Hardy, C, Kurian, M, Jayawant, S, Hughes, S, Pretorius, P, Németh, A
Formato: Journal article
Idioma:English
Publicado: 2014