Article
Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure.
Molecular human reproduction - 1 Aug 2004
Bodega B, Porta C, Crosignani P G, Ginelli E, Marozzi A
Abstract excerpt
Premature ovarian failure (POF) is a heterogeneous disorder whose aetiology is still unknown. Recently, the autosomal FOXL2 gene, highly expressed in the adult ovary, has been correlated with the disorder. FOXL2 mutations, causing a truncation of the FOXL2 protein in the forkhead domain or in the poly-Ala tract lead to blepharophimosis-ptosis-epicanthus-inversus syndrome associated with POF (BPES I)....
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