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CHARGE syndrome associated with de novo (I1460Rfs(*)15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney
CHARGE syndrome is an autosomal dominant condition caused by mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene. The present study reported on the case of a 16-month-old female with plurimalformative syndrome, whose etiology was identified by clinical whole-exome sequencing (WE...
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| Publicado no: | Exp Ther Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7271729/ https://ncbi.nlm.nih.gov/pubmed/32509017 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2020.8683 |
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