Homozygous stop mutation in the SNX10 gene in a...

European Journal of Medical Genetics 2013 / 1 Vol. 56; Iss. 1

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

Mégarbané, André, Pangrazio, Alessandra, Villa, Anna, Chouery, Eliane, Maarawi, Joseph, Sabbagh, Sandra, Lefranc, Gérard, Sobacchi, Cristina
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Volume:
56
Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2012.10.010
Date:
January, 2013
File:
PDF, 553 KB
english, 2013
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