MPS IIIC was the only mucopolysaccharidosis for which the gene had not been cloned. This is no longer the case thanks to the recent identification of the causal gene by a group from Toronto, Canada.
Am J Hum Genet. 2006 Oct;79(4):738-44. Epub 2006 Aug 23.
For more information on mucopolysaccharidoses, please see chapter 136 of OMMBID.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator