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Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

OBJECTIVE: To identify the genetic cause of disease in a form of congenital spinal muscular atrophy and arthrogryposis (CSMAA). METHODS: A 2-year-old boy was diagnosed with arthrogryposis multiplex congenita, severe skeletal abnormalities, torticollis, vocal cord paralysis, and diminished lower limb...

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Detalles Bibliográficos
Autores principales:	Velilla, Jose, Marchetti, Michael Mario, Toth-Petroczy, Agnes, Grosgogeat, Claire, Bennett, Alexis H., Carmichael, Nikkola, Estrella, Elicia, Darras, Basil T., Frank, Natasha Y., Krier, Joel, Gaudet, Rachelle, Gupta, Vandana A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454305/ https://www.ncbi.nlm.nih.gov/pubmed/31041394 http://dx.doi.org/10.1212/NXG.0000000000000312

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