Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

Source:http://linkedlifedata.com/resource/pubmed/id/9805126

Am. J. Med. Genet. 1998 Nov 2 80 2 115-20

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9805126