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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Dettagli Bibliografici
Pubblicato in:Cureus
Autori principali: Wael Alnahar, Batool, Alsheikh, Ahmed M, Alruhaimi, Amani G, Abdulghani, Ibtesam A
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cureus 2020
Soggetti:
Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7772166/
https://ncbi.nlm.nih.gov/pubmed/33391964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.12291
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