rhizomelic chondrodysplasia punctata

(redirected from Chondrodysplasia punctata, rhizomelic)

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.
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