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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium; Byers PH, Zschocke J. Kapferer-Seebacher I, et al. Among authors: schmuth m. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745832 Free PMC article.
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.
Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Gruber R, et al. Among authors: schmuth m. Eur J Hum Genet. 2007 Feb;15(2):179-84. doi: 10.1038/sj.ejhg.5201742. Epub 2006 Dec 13. Eur J Hum Genet. 2007. PMID: 17164798
An appraisal of oral retinoids in the treatment of pachyonychia congenita.
Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJ, Sidoroff A, Fritsch PO, Schmuth M. Gruber R, et al. Among authors: schmuth m. J Am Acad Dermatol. 2012 Jun;66(6):e193-9. doi: 10.1016/j.jaad.2011.02.003. Epub 2011 May 24. J Am Acad Dermatol. 2012. PMID: 21601946
Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.
Gruber R, Schossig AS, Alnutaifi KA, Martinz V, Blunder S, Zschocke J, Schmuth M, Tinschert S. Gruber R, et al. Among authors: schmuth m. J Dtsch Dermatol Ges. 2013 Oct;11(10):1023-5. doi: 10.1111/ddg.12116. Epub 2013 May 13. J Dtsch Dermatol Ges. 2013. PMID: 23668231 No abstract available.
204 results