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A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
Zhou, Yi-Kun; Yang, Xiao-Chun; Cao, Yang; Su, Heng; Liu, Li; Liang, Zhi; Zheng, Yun.
Afiliação
  • Zhou YK; Department of Endocrinology and Metabolism, First People's Hospital of Yunnan Province (The Affiliated Hospital of Kunming University of Science and Technology), Kunming, 650032, People's Republic of China. yikunzhou22@sina.com.
  • Yang XC; Department of Ophthalmology, First People's Hospital of Yunnan Province (The Kunhua Affiliated Hospital of Kunming University of Science and Technology), Kunming, 650032, People's Republic of China.
  • Cao Y; Center of Growth, Metabolism and Aging, Key Lab of Bio-Resources and Eco-Environment of Ministry of Education, College of Life Sciences, Sichuan University, Chengdu, 610064, People's Republic of China.
  • Su H; Department of Endocrinology and Metabolism, First People's Hospital of Yunnan Province (The Affiliated Hospital of Kunming University of Science and Technology), Kunming, 650032, People's Republic of China.
  • Liu L; Yunnan Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, 650500, People's Republic of China.
  • Liang Z; Department of Information center, First People's Hospital of Yunnan Province (The Affiliated Hospital of Kunming University of Science and Technology), Kunming, 650032, People's Republic of China. zhiliang1973@sina.com.
  • Zheng Y; Yunnan Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, 650500, People's Republic of China. zhengyun5488@gmail.com.
BMC Med Genet ; 19(Suppl 1): 214, 2018 12 31.
Article em En | MEDLINE | ID: mdl-30598092

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article