The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

<p><strong>Purpose</strong> Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders,...

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Những tác giả chính: Piard, J, Hawkes, L, Milh, M, Villard, L, Borgatti, R, Romaniello, R, Fradin, M, Capri, Y, Héron, D, Nougues, M, Nava, C, Arsene, O, Shears, D, Taylor, J, Pagnamenta, A, Sogawa, Y, Johnson, D, Firth, H, Vasudevan, P, Jones, G, Nguyen-Morel, M, Busa, T, Roubertie, A, Van Den Born, M, Brischoux-Boucher, E, Koenig, M, Mignot, C, Ddd Study, Kini, U, Philippe, C
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: Springer Nature 2018

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