Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia

Fanconi anemia (FA) is a rare autosomal recessive inherited disease caused by gene mutations that are primarily involved in the response to or repair of DNA damage. FA characterizes by multiple congenital abnormalities and malformations including growth retardation, renal agenesis, absence of radial...

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Detalles Bibliográficos
Autores principales: Al Jabri, Aida, Al Naim, Nusaybah, Al Dossari, Abeer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8302383/
https://www.ncbi.nlm.nih.gov/pubmed/34327028
http://dx.doi.org/10.1155/2021/6686312

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8302383/
https://www.ncbi.nlm.nih.gov/pubmed/34327028
http://dx.doi.org/10.1155/2021/6686312

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