rhizomelic chondrodysplasia punctata
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rhizomelic chondrodysplasia punctata
[MIM*215100]autosomal recessively inherited lethal chondrodysplasia caused by mutation in the PEX7 gene encoding the peroxisomal type 2 targeting signal (PTS2) receptor on chromosomal 6q.
Farlex Partner Medical Dictionary © Farlex 2012
rhi·zo·mel·ic chon·dro·dys·pla·si·a punc·ta·ta
(rī'zō-mel'ik kon'drō-dis-plā'zē-ă pŭngk-tā'tă)Autosomal recessively inherited lethal chondrodysplasia caused by mutation in the PEX 7 gene encoding the peroxisomal type 2 targeting signal (PTS2) receptor on chromosomal 6q.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012