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Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review

Recent studies have indicated that heterozygous loss-of-function variants in fibroblast growth factor receptor 1 (FGFR1) are involved in the development of congenital hypogonadotropic hypogonadism and combined pituitary hormone deficiency (CPHD). We encountered a Japanese boy with short stature and...

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Detalles Bibliográficos
Autores principales:	Sano, Shinichiro, Masunaga, Yohei, Kato, Fumiko, Fujisawa, Yasuko, Saitsu, Hirotomo, Ogata, Tsutomu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297172/ https://www.ncbi.nlm.nih.gov/pubmed/35928375 http://dx.doi.org/10.1297/cpe.2022-0020

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