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 ?
2006) MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.
2015) A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Incesu, "Case report: rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn," Turkish Journal of Diagnostic and Interventional Radiology, vol.
Pauli, "Natural history of rhizomelic chondrodysplasia punctata," American Journal of Medical Genetics, vol.