Affiliation: University of Florence
- TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci
Genetic Health Services Victoria and Murdoch Childrens Research Institute, Parkville, Victoria, Australia
Orphanet J Rare Dis 6:37. 2011..Recently, TRPV4 mutations have been found in patients diagnosed with these skeletal phenotypes...