PMC Links for OMIM (Select 607860) - PMC

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Items: 3

Select item 65902151.

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

Matthias Rath, Stefanie Spiegler, Tim M. Strom, Johannes Trenkler, Peter Michael Kroisel, Ute Felbor

Am J Med Genet A. 2019 Feb; 179(2): 295–299. Published online 2018 Dec 17. doi: 10.1002/ajmg.a.60700

PMCID:: PMC6590215

Abstract Article PDF–824K

Select item 52230262.

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Dong-chuan Guo, Xue-Yan Duan, Ellen S. Regalado, Lauren Mellor-Crummey, Callie S. Kwartler, Dong Kim, Kenneth Lieberman, Bert B.A. de Vries, Rolph Pfundt, Albert Schinzel, Dieter Kotzot, Xuetong Shen, Min-Lee Yang, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Heather L. Gornik, Santhi K. Ganesh, Alan C. Braverman, Dorothy K. Grange, Dianna M. Milewicz

Am J Hum Genet. 2017 Jan 5; 100(1): 21–30. Published online 2016 Dec 8. doi: 10.1016/j.ajhg.2016.11.008