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WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

24 May 2013

Abstract excerpt

To the Editor We read with great interest the report by Fahiminiya and colleagues on the involvement of WNT1 in the pathogenesis of autosomal recessive osteogenesis imperfecta (OI).1 The identification of WNT1 as a novel OI gene by several groups was not guided by the knockout mouse phenotype but rather based on the use of next generation sequencing.1–3 However, the phenotype described for Wnt1 −/− was that of...

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PMID: 23709755
DOI: 10.1136/jmedgenet-2013-101750

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