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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Clin Pediatr Endocrinol
Главные авторы: Kubota, Takuo, Adachi, Masanori, Kitaoka, Taichi, Hasegawa, Kosei, Ohata, Yasuhisa, Fujiwara, Makoto, Michigami, Toshimi, Mochizuki, Hiroshi, Ozono, Keiichi
Формат: Artigo
Язык:Inglês
Опубликовано: The Japanese Society for Pediatric Endocrinology 2020
Предметы:
Special Report
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы