Identification of the first promoter‐specific gain‐of‐function SOX9 missense variant (p. E50K ) in a patient with 46, XX ovotesticular disorder of sex development-Reference-Cited by-同舟云学术

Identification of the first promoter‐specific gain‐of‐function SOX9 missense variant (p. E50K ) in a patient with 46, XX ovotesticular disorder of sex development

Published:2021-01-05 Issue:4 Volume:185 Page:1067-1075
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ushijima Kikumi¹,Ogawa Yuya²,Terao Miho²,Asakura Yumi³,Muroya Koji³,Hayashi Mie⁴,Ishii Tomohiro⁴,Hasegawa Tomonobu⁴,Sekido Ryohei⁵,Fukami Maki¹^ORCID,Takada Shuji²,Narumi Satoshi¹⁴^ORCID

Affiliation:

1. Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan

2. Department of Systems BioMedicine National Research Institute for Child Health and Development Tokyo Japan

3. Department of Endocrinology and Metabolism Kanagawa Children's Medical Center Yokohama city Japan

4. Department of Pediatrics Keio University School of Medicine Tokyo Japan

5. Institute of Medical Sciences University of Aberdeen Aberdeen UK

Funder

Japan Society for the Promotion of Science

National Center for Child Health and Development

Publisher

Wiley

Subject