Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

We report ten individuals of four independent consanguineous families from Turkey, India, Libya, and Pakistan with a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insufficiency at birth, muscular atrophy predominantly of the distal lower limbs, scolio...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hölker, Irmgard, Hebbar, Malavika, Shukla, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O’Driscoll, Mary, Loeys, Bart, Wirth, Brunhilde
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5097934/
https://ncbi.nlm.nih.gov/pubmed/27843126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.09.019
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