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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...
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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2020
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| Assuntos: | |
| Acesso em linha: | 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 |
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