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SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
Fischer-Zirnsak B, Koenig R, Alisch F, Güneş N, Hausser I, Saha N, Beck-Woedl S, Haack TB, Thiel C, Kamrath C, Tüysüz B, Henning S, Mundlos S, Hoffmann K, Horn D, Kornak U. Fischer-Zirnsak B, et al. Among authors: hoffmann k. J Hum Genet. 2019 Jul;64(7):609-616. doi: 10.1038/s10038-019-0602-8. Epub 2019 Apr 24. J Hum Genet. 2019. PMID: 31015584
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S. Hoffmann K, et al. Am J Hum Genet. 2006 Aug;79(2):303-12. doi: 10.1086/506257. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826520 Free PMC article.
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K. Michalk A, et al. Among authors: hoffmann k. Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006. Am J Hum Genet. 2008. PMID: 18252226 Free PMC article.
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K. Baasanjav S, et al. Among authors: hoffmann k. Am J Hum Genet. 2011 Jul 15;89(1):15-27. doi: 10.1016/j.ajhg.2011.05.021. Am J Hum Genet. 2011. PMID: 21763480 Free PMC article.
2,611 results