Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | BMJ Case Rep |
|---|---|
| Prif Awduron: | , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BMJ Publishing Group
2016
|
| Pynciau: | |
| Mynediad Ar-lein: | 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 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|