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

Biology of Sex Differences

Volumn 7, Issue 1, 2016, Pages 1-5

  Miyado, Mami ^a   Inui, Masafumi ^a   Igarashi, Maki ^a   Katoh Fukui, Yuko ^a   Takasawa, Kei ^b   Hakoda, Akiko ^c   Kanno, Junko ^c   Kashimada, Kenichi ^b   Miyado, Kenji ^a   Tamano, Moe ^a   Ogata, Tsutomu ^a,d   Takada, Shuji ^a   Fukami, Maki ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c MIYAGI CHILDREN S HOSPITAL   (Japan)

^d HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Disorders of sex development; Genome editing; Gonadal development; Gonadal dysgenesis; Mouse model; Mutation; Sex differentiation; SF 1

Indexed keywords

EID: 84994589522     PISSN: None     EISSN: 20426410     Source Type: Journal    
DOI: 10.1186/s13293-016-0114-6     Document Type: Letter

References (11)

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