Molecular and phenotypic features of premature ovarian failure (POF) cases in 46,XY DSD families with <i>NR5A1</i> mutations.
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aAll mutations are heterozygous except for c.877G>A (p.D293N). 46, XY DSD: 46, XY disorder of sex development; PA: primary amenorrhea; SA: secondary amenorrhea; LBD: ligand binding domain.
创建时间：
2013-09-20
