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Case Reports
. 2007 Apr;121(2):269-73.
doi: 10.1007/s00439-006-0311-1. Epub 2007 Jan 3.

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34

B Isidor  1 , N Dagoneau, C Huber, D Genevieve, B Bader-Meunier, S Blanche, C Picard, M C De Vernejoul, A Munnich, M Le Merrer, V Cormier-Daire
Affiliations
Case Reports

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34

B Isidor et al. Hum Genet. 2007 Apr.

Abstract

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 = 4.21 at theta = 0 at locus D7S2513) in a 3.4 Mb defined by loci D7S2560 and AC091742. Ongoing studies will hopefully lead to identification of the disease-causing gene.

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