Multiple epiphyseal dysplasia

[1]. C G Bönnemann, et al. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1212-7. [Content Brief]

[2]. Hae-Ryong Song, et al. Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. J Hum Genet. 2003;48(5):222-225. [Content Brief]

[3]. K L Chapman, et al. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet. 2001 Aug;28(4):393-6. [Content Brief]

[4]. Karthika Balasubramanian, et al. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. Am J Med Genet A. 2017 Sep;173(9):2415-2421. [Content Brief]

[5]. M Czarny-Ratajczak, et al. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet. 2001 Nov;69(5):969-80. [Content Brief]

[6]. Outi Mäkitie, et al. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Am J Med Genet A. 2003 Oct 15;122A(3):187-92. [Content Brief]

[7]. S Unger, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet. 2001 Winter;106(4):244-50. [Content Brief]

[8]. Sheila Unger, et al. Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):19-32. [Content Brief]

[9]. Y Muragaki, et al. A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet. 1996 Jan;12(1):103-5. [Content Brief]