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rhizomelic chondrodysplasia punctata


Definition: autosomal recessively inherited lethal chondrodysplasia caused by mutation in the PEX7 gene encoding the peroxisomal type 2 targeting signal (PTS2) receptor on chromosomal 6q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.