Variants in SRY and NR5A1 Genes in Sri Lankan children with 46, XY disorders of sex development: insights into mutation spectrum and diagnostic potential

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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Bibliographic Details
Main Authors: Daniel Sanjeev Ferdinands, Sumadee De Silva, Asanka Sudeshini Hewage, Navoda Atapattu
Format: Article
Language:English
Published: SpringerOpen 2025-05-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Copy number variation
46, XY DSD
MLPA
Molecular genetics
NR5A1
Sex development disorders
Online Access:https://doi.org/10.1186/s43042-025-00725-4
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