Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency

Author:

Cheng Yiping1,Xu Chao1,Yang Jiangfei2,Zhou Xinli1,Chen Nan3

Affiliation:

1. Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250021, P.R. China

2. Department of Radiology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250021, P.R. China

3. Department of Dermatology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250021, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference33 articles.

1. Disorders of sexual development;Allen;Obstet Gynecol Clin North Am,2009

2. 46,XY Disorders of sexual development;Domenice,2000

3. How sexually dimorphic are we? Review and synthesis;Hull;Am J Hum Biol,2003

4. Genetic analysis in inherited metabolic disorders-from diagnosis to treatment. Own experience, current state of knowledge and perspectives;Wertheim-Tysarowska;Dev Period Med,2015

5. Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development;Berglund;J Clin Endocrinol Metab,2016

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