Integrated genetic and clinical investigation of autosomal dominant hereditary uterine leiomyomas: genotype-phenotype correlation in a pakistani family.

Abstract excerpt

BACKGROUND: Hereditary uterine fibroids represent an understudied subset of leiomyomas with limited genetic characterization beyond fumarate hydratase (FH)-associated Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome, where germline heterozygous mutations often cause uterine leiomyomas with cutaneous involvement in many carriers and increased risk of renal cell carcinoma in a minority. AIMS AND...

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