Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy.
Department of Medical Genetics, Child and Family Research Institute, Vancouver, British Columbia, Canada. ckwong@cfri.ca.
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Wong
D019916:Choline-Phosphate Cytidylyltransferase / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000235:genetics*; D010713:Phosphatidylcholines / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000235:genetics*
D010713:Phosphatidylcholines; D019916:Choline-Phosphate Cytidylyltransferase