A Novel FGFR1 Mutation Causing Familial Normosmic Hypogonadotropic Hypogonadism in Three Sisters

被引：0
作者：
Gupta, Avantika [1 ]
Kar, Anjana [2 ]
Dalal, Ashwin [2 ]
Dhanvij, Minal [1 ]
Gangane, Neha [1 ]
Mundle, Shuchita [1 ]
机构：
[1] All India Inst Med Sci, Dept Obstet & Gynecol, Nagpur, India
[2] Govt India, Minist Sci & Technol, Ctr DNA Fingerprinting & Diagnost, Diagnost Div, Hyderabad, India
来源：
JOURNAL OF OBSTETRICS AND GYNECOLOGY OF INDIA | 2024年
关键词：
D O I：
10.1007/s13224-024-01995-5
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
[No abstract available]
引用
收藏
页码：545 / 548
页数：4
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  • [1] An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family
    Alzahrani, Ahmad J.
    Ahmad, Azzam
    Alhazmi, Tariq
    Ahmad, Lujin
    [J]. CASE REPORTS IN PEDIATRICS, 2019, 2019
  • [2] Cariboni Anna, 2021, Handb Clin Neurol, V182, P307, DOI 10.1016/B978-0-12-819973-2.00022-8
  • [3] Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant
    Choe, Jaewon
    Kim, Jae Hyun
    Kim, Young Ah
    Lee, Jieun
    [J]. ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2020, 25 (03) : 192 - 197
  • [4] Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings
    Sagi, Satyanarayana, V
    Joshi, Hareesh
    Whiles, Emily
    Hikmat, Mondy
    Puthi, Vijith R.
    MacDougall, Jane
    Spiden, Sarah L.
    Fuller, Gavin
    Park, Soo-Mi
    Oyibo, Samson O.
    [J]. ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2020, : 1 - 5
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