Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s10038-020-00883-w.pdf
Reference20 articles.
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3. Pascual-Castroviejo I, Lopez-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Roche Herrero C. Hypomelanosis of Ito. Neurological complications in 34 cases. Can J Neurol Sci. 1988;15:124–9.
4. Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, et al. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum Mutat. 2020;41:591–9.
5. Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, et al. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2019;51:1438–41.
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