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A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD), an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles and delayed closure of the cranial sutures, is caused by mutations of the runt-related transcription factor 2 (RUNX2) gene. The RUNX2 gene consists of a glutamine and alanine repeat domain...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Mol Syndromol |
|---|---|
| Prif Awduron: | , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
S. Karger AG
2015
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4369121/ https://ncbi.nlm.nih.gov/pubmed/25852448 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000370337 |
| Tagiau: |
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