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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Andreucci, Elena; Aftimos, Salim; Alcausin, Melanie; Haan, Eric; Hunter, Warwick; Kannu, Peter; Kerr, Bronwyn; McGillivray, George; McKinlay Gardner, R J; Patricelli, Maria G; Sillence, David; Thompson, Elizabeth; Zacharin, Margaret; Zankl, Andreas; Lamandé, Shireen R; Savarirayan, Ravi.
Affiliation
  • Andreucci E; Genetic Health Services Victoria and Murdoch Childrens Research Institute, Parkville, Victoria, Australia. elena.andreucci@unifi.it
Orphanet J Rare Dis ; 6: 37, 2011 Jun 09.
Article in En | MEDLINE | ID: mdl-21658220
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / TRPV Cation Channels / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2011 Type: Article Affiliation country: Australia
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / TRPV Cation Channels / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2011 Type: Article Affiliation country: Australia