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Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report

We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant...

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Detalles Bibliográficos
Autores principales:	James, D, Subramanian, L, Selina, A, Palocaren, T, Madhuri, V
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Malaysian Orthopaedic Association 2022
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388809/ https://www.ncbi.nlm.nih.gov/pubmed/35992980 http://dx.doi.org/10.5704/MOJ.2207.021

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