HuGE Literature Finder
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| De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. European journal of human genetics : EJHG 2016 Jan . Lugtenberg Dorien, Reijnders Margot R F, Fenckova Michaela, Bijlsma Emilia K, Bernier Raphael, van Bon Bregje W M, Smeets Eric, Vulto-van Silfhout Anneke T, Bosch Danielle, Eichler Evan E, Mefford Heather C, Carvill Gemma L, Bongers Ernie M H F, Schuurs-Hoeijmakers Janneke Hm, Ruivenkamp Claudia A, Santen Gijs W E, van den Maagdenberg Arn M J M, Peeters-Scholte Cacha M P C D, Kuenen Sabine, Verstreken Patrik, Pfundt Rolph, Yntema Helger G, de Vries Petra F, Veltman Joris A, Hoischen Alexander, Gilissen Christian, de Vries Bert B A, Schenck Annette, Kleefstra Tjitske, Vissers Lisenka E L |
| 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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