Article
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists - 1 May 2018
Gunnala Vinay, Pereira Nigel, Irani Mohamad, Lilienthal Debra, Pirog Edyta C, Soslow Robert, Caputo Thomas A, Elias Rony, Kligman Isaac, Rosenwaks Zev
Abstract excerpt
Hereditary leiomyomatosis renal cell cancer syndrome is an autosomal dominant disorder characterized by uterine and cutaneous leiomyomas and increased predisposition to renal cell carcinoma, papillary type II. The syndrome is caused by heterozygous mutations to the fumarate hydratase (FH) gene located on chromosome 1. Affected females generally present with early onset, atypical uterine leiomyomas and cutaneous...
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