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    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)