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...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Aida Al Jabri, Nusaybah Al Naim, Abeer Al Dossari
Format: Artikel
Sprache:English
Veröffentlicht: Hindawi Limited 2021-01-01
Schriftenreihe:Case Reports in Endocrinology
Online Zugang:http://dx.doi.org/10.1155/2021/6686312

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