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Page 1
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.
Eckl KM, Gruber R, Brennan L, Marriott A, Plank R, Moosbrugger-Martinz V, Blunder S, Schossig A, Altmüller J, Thiele H, Nürnberg P, Zschocke J, Hennies HC, Schmuth M. Eckl KM, et al. Among authors: blunder s. Front Genet. 2021 Jul 12;12:689940. doi: 10.3389/fgene.2021.689940. eCollection 2021. Front Genet. 2021. PMID: 34322157 Free PMC article.
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: blunder s. 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.
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P. Gruber R, et al. Among authors: blunder s. J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. J Invest Dermatol. 2017. PMID: 28017832 Free PMC article. Review.
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
Seidl-Philipp M, Schatz UA, Gasslitter I, Moosbrugger-Martinz V, Blunder S, Schossig AS, Zschocke J, Schmuth M, Gruber R. Seidl-Philipp M, et al. Among authors: blunder s. J Dtsch Dermatol Ges. 2020 Jan;18(1):17-25. doi: 10.1111/ddg.13968. Epub 2019 Oct 23. J Dtsch Dermatol Ges. 2020. PMID: 31642606
33 results