Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. - Pöhler E; Zamiri M; Harkins CP; Salas-Alanis JC; Perkins W; Smith FJD; Irwin McLean WH; Brown SJ (The Journal of investigative dermatology, 2013)