Spondylometaphyseal dysplasia
Definition:
References:
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[1]. Bertrand Isidor, et al. Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy. Am J Med Genet A. 2010 Jun;152A(6):1550-4. [Content Brief]
[2]. Chae Syng Lee, et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 2;101(5):815-823. [Content Brief]
[3]. Deborah Krakow, et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar;84(3):307-15. [Content Brief]
[4]. S Matsubayashi, et al. COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type. Mol Syndromol. 2013 Mar;4(3):148-51. [Content Brief]
[5]. Salma Ben-Salem, et al. Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. J Med Genet. 2018 Feb;55(2):122-130. [Content Brief]
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