Records 1 - 4
| A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency.
Andrologia 2016 May .
Tuhan H, Anik A, Catli G, Onay H, Aykut A, Abaci A, Bober
| Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
Hormone research in pædiatrics 2015 84 (2): 116-23.
Woo Kyu Ha, Cheon Buwon, Kim Ja Hye, Cho Jahyang, Kim Gu-Hwan, Yoo Han-Wook, Choi Jin-
| Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
European journal of human genetics : EJHG 2013 Sep 21 (9): 1012-5.
Röpke Albrecht, Tewes Ann-Christin, Gromoll Jörg, Kliesch Sabine, Wieacker Peter, Tüttelmann Fra
| The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency.
Journal of pediatric endocrinology & metabolism : JPEM 2012 25 (3-4): 295-300.
Guoying Chang, Zhiya Dong, Wei Wang, Na Li, Xiaoying Li, Yuan Xiao, Defen Wa