Sporadic Case of CHARGE Syndrome With Chromodomain-Helicase-DNA-Binding Protein 7 (CDH7) Gene Mutation

CHARGE syndrome with chromodomain-helicase-DNA-binding protein 7 (CDH7) gene mutation is a genetic disease with an autosomal dominant gene. This syndrome involves a combination of six congenital anomalies (heart anomalies, coloboma of the eye, retardation of the growth or development, atresia of the...

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Detalles Bibliográficos
Autores principales: Wael Alnahar, Batool, Alsheikh, Ahmed M, Alruhaimi, Amani G, Abdulghani, Ibtesam A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772166/
https://www.ncbi.nlm.nih.gov/pubmed/33391964
http://dx.doi.org/10.7759/cureus.12291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772166/
https://www.ncbi.nlm.nih.gov/pubmed/33391964
http://dx.doi.org/10.7759/cureus.12291

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