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Referenties 1. Cassidy AJ, Steensel MAM van, Steijlen PM et al. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 2005; 77: 909-17. 2. Verstraeten VL, Broers JL, Steensel MAM van, et al. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. Hum Mol Genet 2006; 15: 2509-22. 3. Badeloe S, Geel M van, Steensel MAM van et al. Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. Exp Dermatol 2006; 15: 735-741. 4. Tuyll van Serooskerken AM van, Rooij FW de, Edixhoven A et al. Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria. J Invest Dermatol 2011; 131: 2249-2254. 5. Sandilands A, Terron-Kwiatkowski A, Hull PR et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat genet 2007; 39: 650-4. 6. Verstraeten VL, Caputo S, Steensel MAM van, et al. The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress. J Cell Mol Med 2009; 13: 959-71. 7. Easton JA, Donnelly S, Kamps MA, et al. Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. J Invest Dermatol 2012; 132: 2184-91. 8. Luijten MN, Basten SG, Claessens T, et al. Birt-Hogg-Dube syndrome is a novel ciliopathy. Hum Mol Genet 2013; 22: 4383-97. 151 Example of DNA sequencing to determine the sequence of individual genes, larger genetic regions and entire genomes. Multiple fibrofolliculomas on the forehead in Hornstein-Birt-Hogg-Dubé syndrome. BWEADVSMGFINCORR:Opmaak 1 21-07-2014 17:41 Pagina 151

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