TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

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White matter hyperintensities (WMHs) of the brain are important markers of aging and small-vessel disease. WMHs are rare in healthy children and, when observed, often occur with comorbid neuroinflammatory or vasculitic processes. Here, we describe a complex 4 kb deletion in 2q36.3 that segregates wi...

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Main Authors: Wiszniewski, W, Hunter, J, Hanchard, N, Willer, JR, Shaw, C, Tian, Q, Illner, A, Wang, X, Cheung, S, Patel, A, Campbell, I, Gelowani, V, Hixson, P, Ester, A, Azamian, MS, Potocki, L, Zapata, G, Hernandez, P, Ramocki, M, Santos-Cortez, R, Wang, G, York, M, Justice, M, Chu, Z, Bader, P, Omo-Griffith, L, Madduri, N, Scharer, G, Crawford, H, Yanatatsaneejit, P, Eifert, A, Kerr, J, Bacino, C, Franklin, A, Goin-Kochel, R, Simpson, G, Immken, L, Haque, M, Stosic, M, Williams, MD, Morgan, T, Pruthi, S, Omary, R, Boyadjiev, SA, Win, K, Thida, A, Hurles, M, Hibberd, M, Khor, C, Van Vinh Chau, N, Gallagher, T, Mutirangura, A, Stankiewicz, P, Beaudet, A, Maletic-Savatic, M, Rosenfeld, J, Shaffer, L, Davis, E, Belmont, J, Dunstan, S, Simmons, C, Bonnen, P, Leal, S, Katsanis, N, Lupski, JR, Lalani, SR
Format: Journal article
Jezik:English
Izdano: 2013

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