| 1 | 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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| 2 | COL11A2, WZS
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| Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
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| Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L.
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| Am J Med Genet 80(2):115-20. 1998
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| 3 | WZS
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| Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia.
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| Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L.
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| Am J Med Genet 43(6):989-95. Review. 1992
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