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Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A. Nishimura G, et al. Among authors: unger s. Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414. Am J Med Genet A. 2010. PMID: 20503319
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A. Bonafé L, et al. Among authors: unger s. PLoS Genet. 2005 Oct;1(4):e47. doi: 10.1371/journal.pgen.0010047. PLoS Genet. 2005. PMID: 16244706 Free PMC article.
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.
Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafé L, Giedion A, Unger S, Superti-Furga A. Renella R, et al. Among authors: unger s. Am J Med Genet A. 2006 Mar 15;140(6):541-50. doi: 10.1002/ajmg.a.31081. Am J Med Genet A. 2006. PMID: 16470600
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD. Zankl A, et al. Among authors: unger s. Eur J Hum Genet. 2007 Feb;15(2):150-4. doi: 10.1038/sj.ejhg.5201744. Epub 2006 Nov 29. Eur J Hum Genet. 2007. PMID: 17133256 Free PMC article.
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S. Walter K, et al. Among authors: unger s. Am J Med Genet A. 2007 Jan 15;143A(2):161-7. doi: 10.1002/ajmg.a.31516. Am J Med Genet A. 2007. PMID: 17163530
691 results