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Dominant TRPV4 Mutations in Nonlethal and Lethal Metatropic Dysplasia
Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Dominant mutations in the gene encoding...
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| Autores principales: | , , , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2010
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4169191/ https://ncbi.nlm.nih.gov/pubmed/20425821 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33392 |
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