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  1. No Access

    Article

    Targeted next generation sequencing screening of Lynch syndrome in Tunisian population

    A high colorectal cancer (CRC) incidence is observed in Tunisia, with a relatively high proportion of patients develo** CRC before the age of 40. While this suggests a genetic susceptibility, only a few Tuni...

    Rihab Ben Sghaier, Anne Maria Lucia Jansen, Ahlem Bdioui, Tom Van Wezel… in Familial Cancer (2019)

  2. No Access

    Article

    Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

    Irwin McLean and colleagues report that heterozygous loss-of-function mutations in AAGAB, which encodes a cytosolic protein implicated in vesicular trafficking, cause punctate palmoplantar keratoderma. They furth...

    Elizabeth Pohler, Ons Mamai, Jennifer Hirst, Mozheh Zamiri, Helen Horn… in Nature Genetics (2012)