These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Search MEDLINE/PubMed
Title: Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. Author: Hebbar M, Girisha KM, Shukla A. Journal: BMJ Case Rep; 2016 May 13; 2016():. PubMed ID: 27177937. 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.[Abstract] [Full Text] [Related] [New Search]