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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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Détails bibliographiques
Publié dans:BMJ Case Rep
Auteurs principaux: Lau, Cheuk Lam, Chee, Yuet Yee, Chung, Brian Hon Yin, Wong, Ming Sum Rosanna
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 2020
Sujets:
Accès en ligne: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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