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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Bibliografische gegevens
Gepubliceerd in:Case Rep Endocrinol
Hoofdauteurs: Al Jabri, Aida, Al Naim, Nusaybah, Al Dossari, Abeer
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Hindawi 2021
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8302383/
https://ncbi.nlm.nih.gov/pubmed/34327028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2021/6686312
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