Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
DOI: 10.1212/NXG.0000000000000312
Agnes Toth-Petroczy,
Alexis H. Bennett,
Basil T. Darras,
Claire Grosgogeat,
Elicia Estrella,
Joel Krier,
Jose Velilla,
Michael Mario Marchetti,
Natasha Y. Frank,
Nikkola Carmichael,
Rachelle Gaudet,
Vandana A. Gupta
Abstract:
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