Article
Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study.
Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie - 1 May 2002
Golan Ilan, Baumert Uwe, Wagener Heinrich, Preising Markus, Lorenz Birgit, Niederdellmann Herbert, Müssig Dieter
Abstract excerpt
AIM: To investigate the phenotypical expression of an identical mutation of the CBFA1/RUNX2 gene within a family with cleidocranial dysplasia. PATIENTS AND METHOD: A five-member family underwent clinical examination. Two members, father and son, showed dissimilar symptoms of cleidocranial dysplasia. The two affected patients were examined for syndrome-typical symptoms, and the genotype was determined by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.