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A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.
J Clin Endocrinol Metab. 1998 Jun;83(6):2091-8. doi: 10.1210/jcem.83.6.4855.
J Clin Endocrinol Metab. 1998.
PMID: 9626144
The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.
Katz MD, Cai LQ, Zhu YS, Herrera C, DeFillo-Ricart M, Shackleton CH, Imperato-McGinley J.
Katz MD, et al. Among authors: defillo ricart m.
J Clin Endocrinol Metab. 1995 Nov;80(11):3160-7. doi: 10.1210/jcem.80.11.7593420.
J Clin Endocrinol Metab. 1995.
PMID: 7593420
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5 alpha-reductase-2 gene mutations in the Dominican Republic.
Cai LQ, Zhu YS, Katz MD, Herrera C, Baéz J, DeFillo-Ricart M, Shackleton CH, Imperato-McGinley J.
Cai LQ, et al. Among authors: defillo ricart m.
J Clin Endocrinol Metab. 1996 May;81(5):1730-5. doi: 10.1210/jcem.81.5.8626825.
J Clin Endocrinol Metab. 1996.
PMID: 8626825
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Mutations in CYP11B1 gene: phenotype-genotype correlations.
Zhu YS, Cordero JJ, Can S, Cai LQ, You X, Herrera C, DeFillo-Ricart M, Shackleton C, Imperato-McGinley J.
Zhu YS, et al. Among authors: defillo ricart m.
Am J Med Genet A. 2003 Oct 15;122A(3):193-200. doi: 10.1002/ajmg.a.20108.
Am J Med Genet A. 2003.
PMID: 12966519
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