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WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. Journal of medical genetics 2015 Aug . 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 Katherine L, Friedman Bethany, Shinawi Marw |
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