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Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation
Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 ( FGFR3 ) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for ∼50 to 70% of cases of HCH, but novel FGFR3 mutations are described. We pre...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2020
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6976309/ https://ncbi.nlm.nih.gov/pubmed/31976144 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1695056 |
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