Article
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.
Human genetics - 1 Apr 2007
Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, Picard C, De Vernejoul M C, Munnich A, Le Merrer M, Cormier-Daire V
Abstract excerpt
Ghosal hemato-diaphyseal dysplasia is a rare autosomal recessive disorder characterized by a progressive sclerosing diaphyseal dysplasia and refractory anemia. The pathogenesis and genetic bases of this syndrome remain hitherto unknown. We have performed a genome wide search in two inbred families originating from Algeria and Tunisia. Here, we report on the mapping of a disease gene to chromosome 7q33-34 (Zmax =...
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