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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB. Domenice S, et al. Among authors: nishi my. Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Birth Defects Res C Embryo Today. 2016. PMID: 28033660 Free PMC article. Review.
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.
Abrão MG, Leite MV, Carvalho LR, Billerbeck AE, Nishi MY, Barbosa AS, Martin RM, Arnhold IJ, Mendonca BB. Abrão MG, et al. Among authors: nishi my. Clin Endocrinol (Oxf). 2006 Sep;65(3):294-300. doi: 10.1111/j.1365-2265.2006.02592.x. Clin Endocrinol (Oxf). 2006. PMID: 16918947 Review.
87 results