Phenotypic spectrum of typical CHARGE syndrome in a Chinese male neonate: a case report

CHARGE syndrome is a rare and complex disorder, causing multiple birth defects and sensory deficits. The CHD7 gene was proved to be the major pathogenic gene in CHARGE syndrome. To date, the phenotype of neonatal CHARGE syndrome is still poorly recognized. In this paper, we report a Chinese neonate...

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Detalles Bibliográficos
Autores principales: Sun, Yifan, Sun, Jingjing, Li, Na, Cai, Cheng, Gong, Xiaohui, Ma, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237969/
https://www.ncbi.nlm.nih.gov/pubmed/32477919
http://dx.doi.org/10.21037/tp.2020.03.09

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237969/
https://www.ncbi.nlm.nih.gov/pubmed/32477919
http://dx.doi.org/10.21037/tp.2020.03.09

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