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Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia

Background: Cleidocranial dysplasia is a rare hereditary skeletal disorder due to heterozygous loss of function mutations in the RUNX2 gene that encodes runt-related transcription factor 2 (RUNX2). Here we report a 52 year-old woman with cleidocranial dysplasia due to a novel RUNX2 mutation. Case de...

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Bibliografske podrobnosti
izdano v:Int J Clin Exp Pathol
Main Authors: Guo, Ya-Wun, Chiu, Chih-Yang, Liu, Chien-Lin, Jap, Tjin-Shing, Lin, Liang-Yu
Format: Artigo
Jezik:Inglês
Izdano: e-Century Publishing Corporation 2015
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4348862/
https://ncbi.nlm.nih.gov/pubmed/25755819
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