| 1 | EDM4, SLC26A2
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| Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene.
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| Syvänen J, Helenius I, Hero M, Mäkitie O, Ignatius J.
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| Am J Med Genet A 161A(6):1491-4. doi: 10.1002/ajmg.a.35872. Epub 2013 Apr 23. No abstract available.
2013
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| 2 | PSACH, COMP, SLC26A2, EDM4
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| Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
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| Vatanavicharn N, Lachman RS, Rimoin DL.
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| Am J Med Genet A 146A(13):1682-6. 2008
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| 3 | NPS1, PTLAH, DSBQS, LRS1, EDM2, EDM4
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| Human syndromes with congenital patellar anomalies and the underlying gene defects.
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| Bongers EM, van Kampen A, van Bokhoven H, Knoers NV.
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| Clin Genet 68(4):302-19. 2005
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| 4 | SLC26A2, ACG1B, ATSG2, DTD, EDM4, CD36
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| Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
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| Karniski LP.
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| Hum Mol Genet 13(19):2165-71. Epub 2004 Aug 04. 2004
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| 5 | SLC26A2, EDM4
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| Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
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| Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG.
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| Am J Med Genet 122A(3):187-92. 2003
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| 6 | EDM4, SLC26A2
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| Sulphate transporter gene mutations in apparently isolated club foot.
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| Huber C, Odent S, Rumeur S, Padovani P, Penet C, Cormier-Daire V, Munnich A, Le Merrer M.
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| J Med Genet 38(3):191-3. No abstract available. 2001
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| 7 | EDM4
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| Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
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| Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD.
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| Nat Genet 28(4):393-6. 2001
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| 8 | EDM4, SLC26A2
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| Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
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| Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J.
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| J Med Genet 36(8):621-4. 1999
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