DeSanto-Shinawi Syndrome: First Case in South America
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference15 articles.
1. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, et al: Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921-1929 (2012).
2. DeSanto C, D'Aco K, Araujo GC, Shannon N, DDD Study, et al: WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet 52:754-761 (2015).
3. Dietzl G, Chen D, Schnorrer F, Su KC, Barinova Y, et al: A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila. Nature 448:151-156 (2007).
4. Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, et al: Genome sequencing identifies major causes of severe intellectual disability. Nature 511:344-347 (2014).
5. Harris J, Lang T, Thomas JPW, Sukkar MB, Nabar NR, Kehrl JH: Autophagy and inflammasomes. Mol Immunol 86:10-15 (2017).
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