%0 Journal Article
%T Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
%A Agnes Toth-Petroczy
%A Alexis H. Bennett
%A Basil T. Darras
%A Claire Grosgogeat
%A Elicia Estrella
%A Joel Krier
%A Jose Velilla
%A Michael Mario Marchetti
%A Natasha Y. Frank
%A Nikkola Carmichael
%A Rachelle Gaudet
%A Vandana A. Gupta
%J Archive of "Neurology: Genetics".
%D 2019
%R 10.1212/NXG.0000000000000312
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454305/