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...
| Κύριοι συγγραφείς: | , , |
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| Μορφή: | Άρθρο |
| Γλώσσα: | English |
| Έκδοση: |
Hindawi Limited
2021-01-01
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| Σειρά: | Case Reports in Endocrinology |
| Διαθέσιμο Online: | http://dx.doi.org/10.1155/2021/6686312 |