Loading...
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2
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...
Na minha lista:
| Udgivet i: | BMJ Case Rep |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
2016
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4885364/ https://ncbi.nlm.nih.gov/pubmed/27177937 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-215162 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|