The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society / The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology

Presentation information

APPES/JSPE Joint Session(English)

APPES/JSPE Joint Session(English) » Tea Break&Poster Discussion

P1-6: Puberty, DSD

Fri. Nov 18, 2016 10:15 AM - 10:45 AM Poster & Exhibition Room (Hall B5)

[P1-6-1] Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues

Maki Igarashi1, Kei Takasawa2, Akiko Hakoda3, Junko Kanno3, Shuji Takada4, Mami Miyado1, Toshihiro Tajima5, Ryohei Sekido6, Tsutomu Ogata1,7, Kenichi Kashimada2, Maki Fukami1 (1.Departments of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), 3.Department of Endocrinology, Miyagi Children’s Hospital, 4.Systems BioMedicine, National Research Institute for Child Health and Development, 5.Department of Pediatrics, Hokkaido University School of Medicine, 6.Institute of Medical Sciences, University of Aberdeen, 7.Department of Pediatrics, Hamamatsu University School of Medicine)

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