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Clinical Practice Guidelines for Achondroplasia*

Achondroplasia (ACH) is a skeletal dysplasia that presents with limb shortening, short stature, and characteristic facial configuration. ACH is caused by mutations of the FGFR3 gene, leading to constantly activated FGFR3 and activation of its downstream intracellular signaling pathway. This results...

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Detalles Bibliográficos
Autores principales:	Kubota, Takuo, Adachi, Masanori, Kitaoka, Taichi, Hasegawa, Kosei, Ohata, Yasuhisa, Fujiwara, Makoto, Michigami, Toshimi, Mochizuki, Hiroshi, Ozono, Keiichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2020
Materias:	Special Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958518/ https://www.ncbi.nlm.nih.gov/pubmed/32029970 http://dx.doi.org/10.1297/cpe.29.25

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