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Richieri-Costa A 1

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21299 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
Zechi-Ceide RM; Jesus Oliveira NA; Guion-Almeida ML; Antunes LFBB; Richieri-Costa A; Passos-Bueno MRS
European Journal of Medical Genetics 2008; 51: 183-196

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