Rhizomelic chondrodysplasia punctata
Definition:
References:
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[1]. J M Powers, et al. Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders. J Mol Neurosci. 2001 Apr-Jun;16(2-3):285-7; discussion 317-21. [Content Brief]
[2]. P E Purdue, et al. Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. Neurochem Res. 1999 Apr;24(4):581-6. [Content Brief]
[3]. R J A Wanders, et al. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. [Content Brief]
[4]. S J Gould, et al. Peroxisome biogenesis disorders: genetics and cell biology. Trends Genet. 2000 Aug;16(8):340-5. [Content Brief]
[5]. Steven J Steinberg, et al. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. [Content Brief]
[6]. Tuva Barøy, et al. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. [Content Brief]
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