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Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

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Description scientific article published on 09 January 2008
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author: Roseli Maria Zechi-Ceide  Maria Leine Guion-Almeida  Antonio Richieri-Costa 

Publication date January 9, 2008
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