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COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM. Verbeek E, et al. Among authors: den hollander jc. Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333902 Free PMC article.
Multiple familial trichoepithelioma and familial cylindroma: one cause!
Oranje AP, Halley D, den Hollander JC, Teepe RG, van de Graaf R, van den Ouweland A, Wagner A. Oranje AP, et al. Among authors: den hollander jc. J Eur Acad Dermatol Venereol. 2008 Nov;22(11):1395-6. doi: 10.1111/j.1468-3083.2008.02648.x. Epub 2008 Mar 18. J Eur Acad Dermatol Venereol. 2008. PMID: 18355210 No abstract available.
Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.
Breuning MH, Oranje AP, Langemeijer RA, Hovius SE, Diepstraten AF, den Hollander JC, Baumgartner N, Dwek JR, Sommer A, Toriello H. Breuning MH, et al. Among authors: den hollander jc. Am J Med Genet. 2000 Sep 11;94(2):91-101. doi: 10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d. Am J Med Genet. 2000. PMID: 10982965
Unexpected life-threatening complications in Kabuki syndrome.
van Haelst MM, Brooks AS, Hoogeboom J, Wessels MW, Tibboel D, de Jongste JC, den Hollander JC, Bongers-Schokking JJ, Niermeijer MF, Willems PJ. van Haelst MM, et al. Among authors: den hollander jc. Am J Med Genet. 2000 Sep 11;94(2):170-3. doi: 10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982974
61 results