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.

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.
References in periodicals archive ?
(1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat.
Pauli, "Natural history of rhizomelic chondrodysplasia punctata," American Journal of Medical Genetics, vol.
Charlotte had rhizomelic chondrodysplasia punctata (RCP) - a rare condition that causes short limbs, bone abnormalities and restricted growth.