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SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae
Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal involvement. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The di...
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| Publicado no: | Eur J Med Genet |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5785083/ https://ncbi.nlm.nih.gov/pubmed/28687525 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2017.07.004 |
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