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A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.
(Journal of Clinical Endocrinology and Metabolism, 1998)
We repor t a novel homozygous mutation of the LH receptor (LHR) gene in three siblings: two 46XY and one 46XX. The 46XY
siblings presented with female external genitalia, primary amenorrhea, and lack of breast development. ...