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The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea

Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19 (patient 2) years, were referred to the pediatric endocrinology clinic because of primary amenorrhea despite norma...

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Detalles Bibliográficos
Autores principales: Yoo, Sukdong, Yoon, Ju Young, Keum, Changwon, Cheon, Chong Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073021/
https://www.ncbi.nlm.nih.gov/pubmed/35038834
http://dx.doi.org/10.6065/apem.2142116.058

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