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Novel TRPV4 variant causes a severe form of metatropic dysplasia
We present a girl born with a frontal bossing, short neck, bell‐shaped thorax, short limbs with prominent joints, and a tail‐like coccygeal appendage. Genetic screening of TRPV4 identified a novel de novo heterozygous missense variant. We believe the variant causes the severe form of metatropic dysp...
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| Publicado no: | Clin Case Rep |
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| Principais autores: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6132144/ https://ncbi.nlm.nih.gov/pubmed/30214761 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1598 |
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