Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2

Hebbar, Malavika and Girisha, KM and Shukla, Anju (2016) Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. BMJ Case Report. pp. 1-3. ISSN 1757-790X

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Abstract

Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium and dental abnormalities. We describe a novel frameshift pathogenic variation—c.470dupT (p.M157Ifs*4, NM_001024630) in the runt-related transcription factor 2 (RUNX2) gene—that adds to the spectrum of mutations in this gene. The current case also illustrates the clinical and radiological findings in an adult with CCD.

Item Type: Article
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 19 Jul 2016 14:53
Last Modified: 19 Jul 2016 14:53
URI: http://eprints.manipal.edu/id/eprint/146660

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