Article
A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.
Human reproduction (Oxford, England) - 1 Dec 2008
Oldenburg R A, van Dooren M F, de Graaf B, Simons E, Govaerts L, Swagemakers S, Verkerk J M H, Oostra B A, Bertoli-Avella A M
Abstract excerpt
BACKGROUND: Premature ovarian failure (POF) is characterized by elevated gonadotrophins and amenorrhea before the age of 40 years and occurs approximately in 1% of women. POF etiology is highly heterogeneous with a wide spectrum of etiological pathogenic mechanisms including genetic causes. These mostly involve numerical, structural or monogenic defects on the X-chromosome. Mutations in a small number of...
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