Article

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

2021-06-24

Abstract excerpt

AbstractCleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, de...

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Literature Corpus work: 4039bdc3-ac43-5058-94ff-9f338663bde5
DOI: 10.17615/jz8k-fp55

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