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Novel Phenotype of Achondroplasia due to Biallelic FGFR3 Pathogenic Variants
Pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for a broad spectrum of skeletal dysplasias, including achondroplasia (ACH). The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G>A and c.1138G>C (p.Gly380Arg). In the homoz...
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| 出版年: | Am J Med Genet A |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6121735/ https://ncbi.nlm.nih.gov/pubmed/30160829 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38839 |
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