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A Case of Lelis Syndrome With Hystrix-Like IchthyosisVAN STEENSEL, M. A. M; WINNEPENNINCKX, V; NAGTZAAM, I. F et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 16, pp 2155-2158, 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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