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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

Hoff PM, Kopetz S , Thomas MB, Langleben A, Rinaldi D, Anthony L, Wolff RA, Lassere Y, Abbruzzese JL

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