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Severe phenotype with cis-acting heterozygous PMP22 mutations.
Niedrist D, Joncourt F, Mátyás G, Müller A. Niedrist D, et al. Among authors: matyas g. Clin Genet. 2009 Mar;75(3):286-9. doi: 10.1111/j.1399-0004.2008.01120.x. Epub 2008 Nov 29. Clin Genet. 2009. PMID: 19067730
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G. Meienberg J, et al. Among authors: matyas g. Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648054 Free PMC article.
191 results