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
Publicado en:Clin Pediatr Endocrinol
Main Authors: Kubota, Takuo, Adachi, Masanori, Kitaoka, Taichi, Hasegawa, Kosei, Ohata, Yasuhisa, Fujiwara, Makoto, Michigami, Toshimi, Mochizuki, Hiroshi, Ozono, Keiichi
Formato: Artigo
Idioma:Inglês
Publicado: The Japanese Society for Pediatric Endocrinology 2020
Assuntos:
Special Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6958518/
https://ncbi.nlm.nih.gov/pubmed/32029970
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.29.25
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