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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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Detalhes bibliográficos
Publicado no:Transl Pediatr
Main Authors: Sun, Yifan, Sun, Jingjing, Li, Na, Cai, Cheng, Gong, Xiaohui, Ma, Li
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7237969/
https://ncbi.nlm.nih.gov/pubmed/32477919
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/tp.2020.03.09
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