[Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report].
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DOI: 10.4067/s0370-41062017000400011
Abstract: INTRODUCTION Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on… read more here.
Keywords: chondrodysplasia punctata; punctata; punctata type; report ... See more keywords