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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
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, BVolume:
99
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2016.11.009
Date:
December, 2016
File:
PDF, 1.22 MB
english, 2016