These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
11. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. Weinstein MM; Tompson SW; Chen Y; Lee B; Cohn DH J Bone Miner Res; 2014 Aug; 29(8):1815-1822. PubMed ID: 24644033 [TBL] [Abstract][Full Text] [Related]
12. PAPSS2 mutations cause autosomal recessive brachyolmia. Miyake N; Elcioglu NH; Iida A; Isguven P; Dai J; Murakami N; Takamura K; Cho TJ; Kim OH; Hasegawa T; Nagai T; Ohashi H; Nishimura G; Matsumoto N; Ikegawa S J Med Genet; 2012 Aug; 49(8):533-8. PubMed ID: 22791835 [TBL] [Abstract][Full Text] [Related]
13. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Nemec SF; Cohn DH; Krakow D; Funari VA; Rimoin DL; Lachman RS Pediatr Radiol; 2012 Jan; 42(1):15-23. PubMed ID: 21863289 [TBL] [Abstract][Full Text] [Related]
14. Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report. Tchio Tchoumba MA; Bai Y; Jin R; Yu X; Male M Orthop Surg; 2020 Feb; 12(1):333-336. PubMed ID: 31808622 [TBL] [Abstract][Full Text] [Related]
15. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Unger S; Lausch E; Stanzial F; Gillessen-Kaesbach G; Stefanova I; Di Stefano CM; Bertini E; Dionisi-Vici C; Nilius B; Zabel B; Superti-Furga A Am J Med Genet A; 2011 Nov; 155A(11):2860-4. PubMed ID: 21964829 [TBL] [Abstract][Full Text] [Related]
16. Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report. Uzman CY; Çankaya T; Güleryüz H; Ülgenalp A; Bozkaya ÖG Skeletal Radiol; 2023 Jan; 52(1):115-118. PubMed ID: 35776137 [TBL] [Abstract][Full Text] [Related]
17. Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. Bargiacchi S; Della Monica M; Biagiotti R; Andreucci E; Ciabattoni S; Poggi P; Di Maurizio M; Defilippi C; Cariati E; Giglio S Eur J Med Genet; 2017 Jul; 60(7):365-368. PubMed ID: 28414187 [TBL] [Abstract][Full Text] [Related]
18. A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. Hurd L; Kirwin SM; Boggs M; Mackenzie WG; Bober MB; Funanage VL; Duncan RL Am J Med Genet A; 2015 Oct; 167A(10):2286-93. PubMed ID: 26249260 [TBL] [Abstract][Full Text] [Related]
19. [Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported]. Cammarata-Scalisi F; Matysiak-Scholze U; Heinze J; Barrera A; Lacruz-Rengel MA; Bracho A; Guerrero Y Arch Argent Pediatr; 2015 Jan; 113(1):e10-3. PubMed ID: 25622169 [TBL] [Abstract][Full Text] [Related]