Work

Functional Validation and Phenotypic Spectrum of Splice‐Site Variants in CHD7 , FGFR1 , and ANOS1 in Congenital Hypogonadotropic Hypogonadism

Year: 2025

Type: article

Study design: Observational Study

Source: Clinical Genetics

DOI: 10.1111/cge.70114

Authors: Yuting Li, Pingchuan Zhang, Jun Guan, Chengli He, Jianglan Fu, Ruizhi Zheng, Danna Chen, Xiong Tang, Meichao Men, Zhiheng Chen, Jia‐Da Li

Institutions: Central South University, Third Xiangya Hospital, Xiangya Hospital Central South University, Henan Provincial People's Hospital, Changsha Medical University

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

Funders: National Natural Science Foundation of China, Natural Science Foundation of Hunan Province

Awards: G2821760190, G3355144375, G5095709837, G5881991527, G6400160757

OpenAlex ID: W4416502016

FWCI:

Cites: 43

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