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

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
Hoofdauteurs: Aida Al Jabri, Nusaybah Al Naim, Abeer Al Dossari
Formaat: Artikel
Taal:English
Gepubliceerd in: Hindawi Limited 2021-01-01
Reeks:Case Reports in Endocrinology
Online toegang:http://dx.doi.org/10.1155/2021/6686312

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