Variants in SRY and NR5A1 Genes in Sri Lankan children with 46, XY disorders of sex development: insights into mutation spectrum and diagnostic potential
Abstract Background 46, XY disorders of sex development (DSD) are clinically and genetically heterogeneous congenital conditions caused by abnormal or incomplete gonadal, genital, or chromosomal development that results in discordant phenotypic sex. The pathophysiology of 46, XY DSD is influenced by...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-05-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-025-00725-4 |
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