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Updated by Dr Amanda Oakley, Dermatologist, Hamilton, New Zealand, December 2015

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A study of seven families with ten children who have features of Rothmund-Thomson syndrome type 1 identified a deep intronic splicing variant in the ANAPC1 gene.[216] Five individuals were homozygous for this variant, and three individuals had a second predicted pathogenic variant in ANAPC1 in trans

perfringens bacteria are the third most common cause of foodborne illness, with poorly prepared meat and poultry, or food properly prepared but left to stand too long, the main culprits in harboring the bacterium