Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Syndrome and PDGFRB[original query] |
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Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West. Journal of neurosurgical sciences 2016 Oct . Raso Alessandro, Biassoni Roberto, Mascelli Samantha, Nozza Paolo, Ugolotti Elisabetta, DI Marco Eddi, DE Marco Patrizia, Merello Elisa, Cama Armando, Pavanello Marco, Capra Valer |
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. American journal of medical genetics. Part A 2020 6 182 (7): 1576-1591. Wenger Tara L, Bly Randall A, Wu Natalie, Albert Catherine M, Park Julie, Shieh Joseph, Chenbhanich Jirat, Heike Carrie L, Adam Margaret P, Chang Irene, Sun Angela, Miller Danny E, Beck Anita E, Gupta Deepti, Boos Markus D, Zackai Elaine H, Everman David, Ganapathi Shireen, Wilson Meredith, Christodoulou John, Zarate Yuri A, Curry Cynthia, Li Dong, Guimier Anne, Amiel Jeanne, Hakonarson Hakon, Webster Richard, Bhoj Elizabeth J, Perkins Jonathan A, Dahl John P, Dobyns William |
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. Journal of human genetics 2023 1 . van de Beek Irma, Glykofridis Iris E, Tanck Michael W T, Luijten Monique N H, Starink Theo M, Balk Jesper A, Johannesma Paul C, Hennekam Eric, van den Hoff Maurice J B, Gunst Quinn D, Gille Johan J P, Polstra Abeltje M, Postmus Pieter E, van Steensel Maurice A M, Postma Alex V, Wolthuis Rob M F, Menko Fred H, Houweling Arjan C, Waisfisz Quint |
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