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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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Dettagli Bibliografici
Pubblicato in:Transl Pediatr
Autori principali: Sun, Yifan, Sun, Jingjing, Li, Na, Cai, Cheng, Gong, Xiaohui, Ma, Li
Natura: Artigo
Lingua:Inglês
Pubblicazione: AME Publishing Company 2020
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Accesso online: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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