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Roseli Maria Zechi-Ceide, Priscila Padilha Moura, Salmo Raskin, Antonio Richieri-Costa and Maria Leine Guion-Almeida A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia American Journal of Medical Genetics Part A 161

Version of Record online: 9 JUL 2013 | DOI: 10.1002/ajmg.a.36057

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