References
- Genevieve D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V. Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature. Am J Med Genet A. 2008; 146A(8): 992-996.
- Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, et al. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis. 2011; 6: 37.
- Bargiacchi S, Della Monica M, Biagiotti R, Andreucci E, Ciabattoni S, Poggi P, et al. Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. Eur J Med Genet. 2017; 60(7): 365-368.
- Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, et al. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. Am J Med Genet A. 2012; 158A(4): 795-802.
- Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, et al. Fetal akinesia in metatropic dysplasia: The combined phenotype of chon-drodysplasia and neuropathy? Am J Med Genet A. 2011; 155A(11): 2860-2864.
- Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R. Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A. 2007; 143A(21): 2512-2522.
- Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, et al. TRPV4-pathy, a novel channelopathy affecting diverse systems. J Hum Genet. 2010; 55(7): 400-402.