Article
The clinical relevance of intragenic NRXN1 deletions.
Journal of medical genetics - 1 May 2020
Cosemans Nele, Vandenhove Laura, Vogels Annick, Devriendt Koenraad, Van Esch Hilde, Van Buggenhout Griet, Olivié Hilde, de Ravel Thomy, Ortibus Els, Legius Eric, Aerssens Peter, Breckpot Jeroen, R Vermeesch Joris, Shen Sanbing, Fitzgerald Jacqueline, Gallagher Louise, Peeters Hilde
Abstract excerpt
BACKGROUND: Intragenic NRXN1 deletions are susceptibility variants for neurodevelopmental disorders; however, their clinical interpretation is often unclear. Therefore, a literature study and an analysis of 43 previously unpublished deletions are provided. METHODS: The literature cohort covered 629 heterozygous NRXN1 deletions: 148 in controls, 341 in probands and 140 in carrier relatives, and was used for...
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