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Identification and in vivo functional analysis of a novel missense mutation in GATA3causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family

Autor: Pan, Shuyao, Long, Shushu, Cai, Liangchun, Wen, Junping, Lin, Wei, Chen, Gang

Publikováno v: Endocrine; 20240101, Issue: Preprints p1-10, 10p

Causal association between thyroid function and the risk of infertility: a Mendelian randomization study.

Autor: Liu Q; Department of Endocrinology, Key Laboratory of Endocrinology, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Qiu Y; Department of Laboratory Medicine, Fujian Medical University Union Hospital, Fuzhou, China., Jiang J; Department of Endocrinology, Key Laboratory of Endocrinology, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Long S; Department of Endocrinology, Key Laboratory of Endocrinology, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Zhu C; Department of Endocrinology, Key Laboratory of Endocrinology, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Chen G; Department of Endocrinology, Key Laboratory of Endocrinology, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China., Wen J; Department of Endocrinology, Key Laboratory of Endocrinology, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Oct 04; Vol. 15, pp. 1425639. Date of Electronic Publication: 2024 Oct 04 (Print Publication: 2024).