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A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndromeDE ZWART-STORM, E. A; VAN GEEL, M; VEYSEY, E et al.British journal of dermatology (1951). 2011, Vol 164, Num 1, pp 197-199, issn 0007-0963, 3 p.Article

Skin changes in oculo-dento-digital dysplasia are correlated with c-terminal truncations of connexin 43VREEBURG, M; DE ZWART-STORM, E. A; SCHOUTEN, M. I et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 4, pp 360-363, issn 1552-4825, 4 p.Article

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafnessDE ZWART-STORM, E. A; HAMM, H; STOEVESANDT, J et al.Journal of medical genetics. 2008, Vol 45, Num 3, pp 161-166, issn 0022-2593, 6 p.Article

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