| 1 | ACAN, SEDMA
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| Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
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| Nilsson O, Guo MH, Dunbar N, Popovic J, Flynn D, Jacobsen C, Lui JC, Hirschhorn JN, Baron J, Dauber A.
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| J Clin Endocrinol Metab 99(8):E1510-8. doi: 10.1210/jc.2014-1332. Epub 2014 Apr 24.
2014
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| 2 | ACAN, SEDMA
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| A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
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| Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D.
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| Am J Hum Genet 84(1):72-9. Epub 2008 Dec 24. 2009
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| 3 | ACAN, SEDMA
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| A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis.
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| Gleghorn L, Ramesar R, Beighton P, Wallis G.
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| Am J Hum Genet 77(3):484-90. Epub 2005 Jul 22. 2005
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| 4 | EDMM, SEDMA
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| Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.
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| Eyre S, Roby P, Wolstencroft K, Spreckley K, Aspinwall R, Bayoumi R, Al-Gazali L, Ramesar R, Beighton P, Wallis G.
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| J Med Genet 39(9):634-8. Erratum in: J Med Genet. 2005 Jun;42(6):e34. 2002
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| 5 | EDMM, SEDMA
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| Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
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| Bayoumi R, Saar K, Lee YA, Nurnberg G, Reis A, Nur-E-Kamal M, Al-Gazali LI.
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| J Med Genet 38(6):369-73. 2001
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| 6 | SEDC, SEDMA
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| Spondyloepiphyseal dysplasia congenita: linkage to type II collagen (COL2A1).
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| Anderson IJ, et al.
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| Am J Hum Genet 46 : 896-901. 1990
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