A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness

E. A. de Zwart-Storm, H. Hamm, J. Stoevesandt, P. M. Steijlen, Patricia E.M. Martin, M. van Geel, M. A.M. van Steensel

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Medicine & Life Sciences