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A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van Steensel MA.
Am J Pathol. 2008 Oct;173(4):1113-9. Epub 2008 Sep 11.PMID: 18787097 [PubMed - indexed for MEDLINE]Related articlesFree article
Multicentric reticulohistiocytosis: case report.
de Zwart-Storm EA, van Marion AM, Gorter SL, Frank J, Kelleners-Smeets NW.
Int J Dermatol. 2007 Nov;46 Suppl 3:39-41.PMID: 17973889 [PubMed - indexed for MEDLINE]Related articles
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA.
J Med Genet. 2008 Mar;45(3):161-6. Epub 2007 Nov 9.PMID: 17993581 [PubMed - indexed for MEDLINE]Related articles
Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43.
Vreeburg M, de Zwart-Storm EA, Schouten MI, Nellen RG, Marcus-Soekarman D, Devies M, van Geel M, van Steensel MA.
Am J Med Genet A. 2007 Feb 15;143(4):360-3.PMID: 17256797 [PubMed - indexed for MEDLINE]Related articles
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Am J Pathol. 2008 Oct; 173(4):1113-9.
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