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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...
Zapisane w:
| Wydane w: | Transl Pediatr |
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| Główni autorzy: | , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
AME Publishing Company
2020
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| Hasła przedmiotowe: | |
| Dostęp 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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