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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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| Publié dans: | Transl Pediatr |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
AME Publishing Company
2020
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| Sujets: | |
| Accès en ligne: | 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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