Article
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Clinical genetics - 1 Jul 2020
Foster Alison, Chalot Basile, Antoniadi Thalia, Schaefer Elise, Keelagher Rebecca, Ryan Gavin, Thomas Quentin, Philippe Christophe, Bruel Ange-Line, Sorlin Arthur, Thauvin-Robinet Christel, Bardou Marc, Luu Maxime, Quenardelle Veronique, Wolff Valerie, Woodley Jessica, Vabres Pierre, Lim Derek, Igbokwe Rebecca, Joseph Annie, Walker Harriet, Jester Andrea, Ellenbogen Jonathan, Johnson Diana, Rooke Bethanie, Moss Celia, Cole Trevor, Faivre Laurence
Abstract excerpt
Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes...
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