Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Radiology, Nuclear Medicine and imaging
Link
https://link.springer.com/content/pdf/10.1007/s00256-022-04105-6.pdf
Reference11 articles.
1. Hsu RH, Hwu WL, Chen M, Chung IF, Peng SS, et al. Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs. Pediatr Neonatol. 2019;60(1):102–4. https://doi.org/10.1016/j.pedneo.2018.04.002.
2. Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, et al. TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet. 2012;160C(3):190–204. https://doi.org/10.1002/ajmg.c.31335.
3. Mégarbané A, Maroteaux P, Caillaud C, Le Merrer M. Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. Am J Med Genet A. 2004;125A(1):61–6. https://doi.org/10.1002/ajmg.a.20442.
4. Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 2019;179(12):2393–419. https://doi.org/10.1002/ajmg.a.61366.
5. Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, et al. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010;152A(5):1169–77. https://doi.org/10.1002/ajmg.a.33392.
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