Rapp-Hodgkin syndrome and the tail of p63.

Abstract excerpt

We report the clinical and molecular abnormalities in a 19-year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. The physical features include mid-facial hypoplasia, uncombable hair, cleft palate and bifid uvula, lacrimal duct obstruction and dry skin. Sequencing of the p63 gene reveals a new heterozygous frameshift mutation, 1787delG, in exon 14. The frameshift results in changes to the tail of p63...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Base Sequence
• Share to Ectodermal Dysplasia
• Share to Facial Bones