Author:
Chong Jessica X.,Caputo Viviana,Phelps Ian G.,Stella Lorenzo,Worgan Lisa,Dempsey Jennifer C.,Nguyen Alina,Leuzzi Vincenzo,Webster Richard,Pizzuti Antonio,Marvin Colby T.,Ishak Gisele E.,Ardern-Holmes Simone,Richmond Zara,Bamshad Michael J.,Ortiz-Gonzalez Xilma R.,Tartaglia Marco,Chopra Maya,Doherty Dan
Subject
Genetics (clinical),Genetics
Reference45 articles.
1. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome;Lalani;Am. J. Hum. Genet.,2014
2. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability;Hunt;J. Med. Genet.,2014
3. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN;Perez;J. Med. Genet.,2015
4. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability;Stray-Pedersen;Am. J. Hum. Genet.,2016
5. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy;Shamseldin;Am. J. Hum. Genet.,2016
Cited by
40 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献