Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1

Hartsfield syndrome (HS: OMIM 615465) is a rare congenital disease associated with a mutation of the fibroblast growth factor receptor 1 gene (FGFR1) with the main features of holoprosencephaly and ectrodactyly. Patients with HS also present with endocrinological deficits, such as isolated hypogonad...

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Detalles Bibliográficos
Autores principales: Kobayashi, Sachiko, Tanigawa, Junpei, Kondo, Hidehito, Nabatame, Shin, Maruoka, Azusa, Sho, Hiroyuki, Tanikawa, Kazuko, Inui, Ryoko, Otsuki, Michio, Shimomura, Iichiro, Ozono, Keiichi, Hashimoto, Kunihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192098/
https://www.ncbi.nlm.nih.gov/pubmed/32373773
http://dx.doi.org/10.1210/jendso/bvaa041

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