Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants-Reference-Cited by-同舟云学术

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants

Published:2021-08-02 Issue:10 Volume:47 Page:3727-3731
ISSN:1341-8076
Container-title:Journal of Obstetrics and Gynaecology Research
language:en
Short-container-title:J of Obstet and Gynaecol

Author:

Xia Junke¹,Luo Xiao¹,Zhang Xinyuan²,Kong Xiangdong¹

Affiliation:

1. Center of Genetic and Prenatal Diagnosis, The Department of Obstetrics and Gynecology The First Affiliated Hospital of Zhengzhou University Zhengzhou China

2. Department of Central laboratory The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology Luoyang China

Funder

National Basic Research Program of China

Publisher

Wiley

Subject

Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jog.14966

Reference14 articles.

1. Cytogenetic Study of Patients with Primary Amenorrhea in the Northeast of Iran

2. Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population

3. Kallmann syndrome in women: from genes to diagnosis and treatment

4. Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation;Maharjan A;Clin Exp Obstet Gynecol,2017

5. WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome

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