title: Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.
authors: Department of Neurology, Schneider Children's Medical Center, Petach Tikva, Israel.
authors: Sharon
authors: S
authors: Aharoni
authors: Gaurav
authors: G
authors: Harlalka
authors: Amaka
authors: A
authors: Offiah
authors: Avinoam
authors: A
authors: Shuper
authors: Andrew H
authors: AH
authors: Crosby
authors: Meriel
authors: M
authors: McEntagart
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D050916:TRPV Cation Channels / Q000235:genetics*; D055815:Young Adult
chemical_list: D050916:TRPV Cation Channels; C416986:TRPV4 protein, human