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...
| Autores principales: | , , |
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| Formato: | Artículo |
| Lenguaje: | English |
| Publicado: |
Hindawi Limited
2021-01-01
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| Colección: | Case Reports in Endocrinology |
| Acceso en línea: | http://dx.doi.org/10.1155/2021/6686312 |