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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Detalles Bibliográficos
Autores principales: Gug, Cristina, Gorduza, Eusebiu Vlad, Lăcătuşu, Adrian, Vaida, Monica Adriana, Bîrsăşteanu, Florin, Puiu, Maria, Stoicănescu, Dorina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271729/
https://www.ncbi.nlm.nih.gov/pubmed/32509017
http://dx.doi.org/10.3892/etm.2020.8683

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271729/
https://www.ncbi.nlm.nih.gov/pubmed/32509017
http://dx.doi.org/10.3892/etm.2020.8683

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