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Subject Clinical genetics -- Genetics

1. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. Issue 11 (11th August 2015)

Authors:
DeSanto, Cori; D'Aco, Kristin; Araujo, Gabriel C; Shannon, Nora; Study, DDD; Vernon, Hilary; Rahrig, April; Monaghan, Kristin G; Niu, Zhiyv; Vitazka, Patrik; Dodd, Jonathan; Tang, Sha; Manwaring, Linda; Martir-Negron, Arelis; Schnur, Rhonda E; Juusola, Jane; Schroeder, Audrey; Pan, Vivian; Helbig...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 11(2015)
Page Start:
754
Record Type:
Journal Article
View Content:
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