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Compound heterozygous TRPV4 mutations in two siblings with ..:

Thibodeau, My Linh ; Peters, Colin H. ; Townsend, Katelin N....
American Journal of Medical Genetics Part A.  173 (2017)  11 - p. 3087-3092 , 2017
Link: https://doi.org/10.1002/ajmg.a.38400