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Items: 4

Select item 58562131.

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

Adel Shalata, Mohammad Mahroom, Dianna M. Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod, William Nseir

Orphanet J Rare Dis. 2018; 13: 41. Published online 2018 Mar 15. doi: 10.1186/s13023-018-0769-7

PMCID:: PMC5856213

Abstract Article PDF–2.3M

Select item 55017712.

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Danny Halim, Erwin Brosens, Françoise Muller, Michael F. Wangler, Arthur L. Beaudet, James R. Lupski, Zeynep H. Coban Akdemir, Michael Doukas, Hans J. Stoop, Bianca M. de Graaf, Rutger W.W. Brouwer, Wilfred F.J. van Ijcken, Jean-François Oury, Jonathan Rosenblatt, Alan J. Burns, Dick Tibboel, Robert M.W. Hofstra, Maria M. Alves

Am J Hum Genet. 2017 Jul 6; 101(1): 123–129. Published online 2017 Jun 8. doi: 10.1016/j.ajhg.2017.05.011

PMCID:: PMC5501771

Abstract Article PDF–1.0M

Select item 50080053.

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

Matias Hannuksela, Eva-Lena Stattin, Joakim Klar, Adam Ameur, Bengt Johansson, Karen Sörensen, Bo Carlberg

BMC Med Genet. 2016; 17(1): 61. Published online 2016 Sep 1. doi: 10.1186/s12881-016-0326-y

PMCID:: PMC5008005

Abstract Article PDF–906K

Select item 29789734.

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

Li Wang, Dong-chuan Guo, Jiumei Cao, Limin Gong, Kristine E. Kamm, Ellen Regalado, Li Li, Sanjay Shete, Wei-Qi He, Min-Sheng Zhu, Stephan Offermanns, Dawna Gilchrist, John Elefteriades, James T. Stull, Dianna M. Milewicz

Am J Hum Genet. 2010 Nov 12; 87(5): 701–707. doi: 10.1016/j.ajhg.2010.10.006