| 1 | OSMED, COL11A2
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| Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
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| Temtamy SA, Mannikko M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.
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| Am J Med Genet A 140(11):1189-95. 2006
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| 2 | COL11A2, OSMED
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| COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
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| Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS.
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| Am J Med Genet A 132(1):33-5. 2005
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| 3 | COL11A2, DFNB53, WZS, OSMED, DFNA13
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| A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
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| Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S.
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| Hum Genet 118(2):175-8. Epub 2005 Nov 15. 2005
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| 4 | COL11A2, OSMED
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| Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
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| Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kaariainen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.
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| Am J Hum Genet 66(2):368-77. 2000
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| 5 | COL11A2, STL3, OSMED
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| Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
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| Pihlajamaa T, et al.
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| Am J Med Genet 80 : 115-120. 1998
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| 6 | COL11A2, OSMED
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| Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
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| van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG.
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| Am J Med Genet 70(3):315-23. 1997
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| 7 | COL11A2, STL3, OSMED
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| Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
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| Vikkula M, et al.
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| Cell 80 : 431-437. 1995
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