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Discovery of a Novel CHD7 CHARGE Syndrome Variant by Integrated Omics Analyses
BACKGROUND: CHD7 pathogenic variants are identified in more than 90% of infants and children with CHARGE syndrome. Approximately 10% of cases have no known genetic cause identified. METHODS: We report a male child with clinical features of CHARGE syndrome and non-diagnostic genetic testing that incl...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8218330/ https://ncbi.nlm.nih.gov/pubmed/33184947 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61962 |
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