Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations
Key Clinical Message Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reporte...
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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2018-11-01
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| coleção: | Clinical Case Reports |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/ccr3.1818 |
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