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Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family

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Year: 2019
Type: article
Study design: Case Report
Source: Hormone Research in Paediatrics
DOI: 10.1159/000497114
Authors: Hafiz Muhammad Jafar Hussain, Ghulam Murtaza, Xiaohua Jiang, Ranjha Khan, Manan Khan, Mian Basit Shah Kakakhel, Teka Khan, Fazal Wahab, Huan Zhang, Yuanwei Zhang, Muhammad Bilal Khan, Parvez Ahmed, Hui Ma, Zhipeng Xu
Institutions: University of Science and Technology of China, Armed Forces Institute of Pathology, Combined Military Hospital, Nanjing Drum Tower Hospital
Language: English

Topic: Hypothalamic control of reproductive hormones
Subfield: Reproductive Medicine
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: University of Science and Technology of China
OpenAlex ID: W2928691900
FWCI: 0.478
Cites: 28
Cited by: 8
Related to: 10
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