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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References in periodicals archive ?

(1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat.

Peroxisome biogenesis and human peroxisome-deficiency disorders

Pauli, "Natural history of rhizomelic chondrodysplasia punctata," American Journal of Medical Genetics, vol.

Rhizomelic Chondrodysplasia punctata: a rare case report

Charlotte had rhizomelic chondrodysplasia punctata (RCP) - a rare condition that causes short limbs, bone abnormalities and restricted growth.