Llwytho...
CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty
We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with CHARGE syndrome and are well described in previous studies. However, with the t...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | BMJ Case Rep |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BMJ Publishing Group
2020
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7380955/ https://ncbi.nlm.nih.gov/pubmed/32699053 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-233037 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|