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Article
Fragile X syndrome without CCG amplification has an FMR1 deletion
We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment. The patient has a previous...
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Article
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
X–linked hypophosphatemic rickets (HYP) is a dominant disorder characterised by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in t...