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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Foilsithe in:Clin Pediatr Endocrinol
Main Authors: Kubota, Takuo, Adachi, Masanori, Kitaoka, Taichi, Hasegawa, Kosei, Ohata, Yasuhisa, Fujiwara, Makoto, Michigami, Toshimi, Mochizuki, Hiroshi, Ozono, Keiichi
Formáid: Artigo
Teanga:Inglês
Foilsithe: The Japanese Society for Pediatric Endocrinology 2020
Ábhair:
Special Report
Rochtain Ar Líne: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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