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Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
Baetens D, Güran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M; ESR2 STUDY GROUP; Atay Z, Bereket A, de Krijger RR, Preter K, Domenice S, Turan S, Stoop H, Looijenga LH, De Bosscher K, Cools M, De Baere E. Baetens D, et al. Among authors: atay z. Genet Med. 2018 Jul;20(7):717-727. doi: 10.1038/gim.2017.163. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261182 Free article.
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, Topaloglu AK. Guran T, et al. Among authors: atay z. J Clin Endocrinol Metab. 2009 Oct;94(10):3633-3639. doi: 10.1210/jc.2009-0551. Epub 2009 Sep 15. J Clin Endocrinol Metab. 2009. PMID: 19755480 Free PMC article.
104 results