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The British Journal of Dermatology|May 27, 2010
A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosisM C Bolling, R S Bladergroen, M A M van Steensel, et al.American Journal of Medical Genetics. Part A|September 14, 2007
Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndromeM A M van Steensel, M van Geel, C Schrander-Stumpel, et al.The British Journal of Dermatology|June 20, 2002
HID and KID syndromes are associated with the same connexin 26 mutationM van Geel, M A M van Steensel, W Küster, et al.Human Mutation|September 18, 2009
Novel missense mutations in the FOXC2 gene alter transcriptional activityM A M van Steensel, R J Damstra, M V Heitink, et al.American Journal of Medical Genetics. Part A|November 20, 2004
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratodermaM A M van Steensel, L Spruijt, I van der Burgt, et al.The British Journal of Dermatology|June 14, 2005
Molecular aetiology and pathogenesis of basal cell carcinomaC M L J Tilli, M A M Van Steensel, G A M Krekels, et al.Journal of Medical Genetics|November 13, 2007
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafnessE A de Zwart-Storm, H Hamm, J Stoevesandt, et al.Experimental Dermatology|August 3, 2006
Recurring HRAS mutation G12S in Dutch patients with Costello syndromeM A M van Steensel, M Vreeburg, C Peels, et al.American Journal of Medical Genetics. Part A|October 18, 2008
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformationM A M van Steensel, M Vreeburg, J Engelen, et al.The British Journal of Dermatology|September 22, 2010
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndromeE A de Zwart-Storm, M van Geel, E Veysey, et al.Pageof 4