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Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome
CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The disease is characterized by a pattern of congenital anomalies that involve multiple organs. In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutat...
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| 出版年: | Front Genet |
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| 主要な著者: | , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2020
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7314916/ https://ncbi.nlm.nih.gov/pubmed/32625235 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00592 |
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