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A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

1 Jan 2013

Abstract excerpt

Autosomal recessive osteogenesis imperfecta (OI) was diagnosed in three unrelated Israeli Bedouin consanguineous families. Fractures were evident in all cases in infancy. Genome-wide linkage analysis ruled out association with any of the known OI genes, and identified a single homozygosity locus of approximately 2 Mb on chromosome 9 common to all affected individuals (maximum multipoint lod score 6.5). Whole...

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PMID: 23316006
DOI: 10.1002/humu.22274

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