Article
Genotype-phenotype associations of MKRN3 variants in children with central precocious puberty: a single-center study from Uzbekistan.
Journal of pediatric endocrinology & metabolism : JPEM - 24 Aug 2026
Khalimova Zamira Yusufovna, Ulug'bek Qizi Uralova Dilafruz, Mamatkulov Elbek Abdumannanovich, Uktam Kizi Abdullaeva Aziza, Kholova Dilorom Sharipovna, Mehmanova Surayyo Otabekovna, Anvarova Sevara Shuxrat Qizi, Rasulova Zulfiya Dadayevna, Khalimova Nargiza Yusufovna
Abstract excerpt
OBJECTIVES: To determine the frequency of selected MKRN3 variants and to investigate genotype-phenotype associations in Uzbek children with central precocious puberty, with particular emphasis on sex-specific clinical, hormonal, and instrumental characteristics. METHODS: This single-center study included 69 Uzbek children with CPP and 30 healthy controls (used primarily for assay validation). Targeted genotyping...
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