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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Query Trace: Sleep and WAC[original query]
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
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Genes 2020 3 11 (3): .
Leonardi Emanuela, Bellini Mariagrazia, Aspromonte Maria C, Polli Roberta, Mercante Anna, Ciaccio Claudia, Granocchio Elisa, Bettella Elisa, Donati Ilaria, Cainelli Elisa, Boni Stefania, Sartori Stefano, Pantaleoni Chiara, Boniver Clementina, Murgia Alessand
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