Identification of a Rare Mutation in the SRD5A2 Gene in an Iranian Family with Sex Development Disorder
5 α-Reductase type 2 deficiency, caused by mutations in the SRD5A2 gene, leads to an autosomal recessive disorder of sex differentiation (DSD) in 46, XY persons. A 2 years old female with ambiguous genitalia was referred to Genetic Foundation of Khorasan Razavi (GFKR), IRAN. Her secondary sex chara...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
University of Tehran
2023-03-01
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| Series: | Journal of Sciences, Islamic Republic of Iran |
| Subjects: | |
| Online Access: | https://jsciences.ut.ac.ir/article_91394_528c8ac53015ec99beee71c9cee5d9a6.pdf |
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