ELECTRONIC LETTER Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype


H utchinson–Gilford progeria syndrome (HGPS; OMIM 176670) is an extremely rare but devastating disorder that mimics premature aging. Affected children appear normal at birth but typically develop failure to thrive in the first two years. Other features include alopecia, micrognathia, loss of subcutaneous fat with prominent veins, abnormal dentition… (More)


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