A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness

Zwart‐Storm, E.A.D., Geel, M.V., NEER, P.A.F.A.V., Steijlen, P.M., Martin, P.E., &amp; Steensel, M.A.M.V. (2008). A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness. <em>American Journal Of Pathology</em>. https://doi.org/10.2353/ajpath.2008.080049

Zwart‐Storm EAD, Geel MV, NEER PAFAV, Steijlen PM, Martin PE, Steensel MAMV. A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness. American Journal Of Pathology. 2008. doi:10.2353/ajpath.2008.080049.

@article{eugene2008ANovel, title = {A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness}, author = {Eugene A. de Zwart‐Storm and Michel van Geel and PIERRE A. F. A. VAN NEER and Peter M. Steijlen and Patricia E. Martin and Maurice A. M. Van Steensel}, journal = {American Journal Of Pathology}, year = {2008}, doi = {10.2353/ajpath.2008.080049}, }