Article
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
Human molecular genetics - 1 Nov 1999
Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb B D, Pirinen S, Berry S A, Greenberg C R, Karsenty G, Lee B
Abstract excerpt
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific transcription factor CBFA1. To correlate CBFA1 mutations in different functional domains with the CCD clinical spectrum, we studied 26 independent cases of CCD and a total of 16 new mutations were identified in 17 families. The majority of mutations were de novo missense mutations that...
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