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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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| 出版年: | Clin Pediatr Endocrinol |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Japanese Society for Pediatric Endocrinology
2020
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| 主題: | |
| オンライン･アクセス: | 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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