The p.R92W variant of <i>NR5A1/Nr5a1</i> induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.

Miyado, Mami; Inui, Masafumi; Igarashi, Maki; Katoh-Fukui, Yuko; Takasawa, Kei; Hakoda, Akiko; Kanno, Junko; Kashimada, Kenichi; Miyado, Kenji; Tamano, Moe; Ogata, Tsutomu; Takada, Shuji; Fukami, Maki

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.

Miyado, Mami; Inui, Masafumi; Igarashi, Maki; Katoh-Fukui, Yuko; Takasawa, Kei; Hakoda, Akiko; Kanno, Junko; Kashimada, Kenichi; Miyado, Kenji; Tamano, Moe; Ogata, Tsutomu; Takada, Shuji; Fukami, Maki.

Afiliação

Miyado M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535 Japan.
Inui M; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, 157-8535 Japan.
Igarashi M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535 Japan.
Katoh-Fukui Y; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535 Japan.
Takasawa K; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, 113-8510 Japan.
Hakoda A; Department of Endocrinology, Miyagi Children's Hospital, Sendai, 989-3126 Japan.
Kanno J; Department of Endocrinology, Miyagi Children's Hospital, Sendai, 989-3126 Japan.
Kashimada K; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, 113-8510 Japan.
Miyado K; Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, 157-8535 Japan.
Tamano M; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, 157-8535 Japan.
Ogata T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535 Japan ; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, 431-3192 Japan.
Takada S; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, 157-8535 Japan.
Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, 157-8535 Japan.