Affiliation:
1. Center for Medical Genetics; Keio University School of Medicine; Tokyo Japan
2. Department of Pediatrics; Keio University School of Medicine; Tokyo Japan
3. Department of Child Neurology; Toyota Municipal Child Development Center; Aichi Japan
4. Department of Pediatrics; Central Hospital; Aichi Human Service Center; Aichi Japan
Funder
Ministry of Health, Labour, and Welfare
Keio University Research Grants
Japan Foundation for Pediatric Research
Grant-in-Aid for Scientific Research
Subject
Genetics (clinical),Genetics
Reference9 articles.
1. A new syndrome: Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay;Braddock;Clin Dysmorphol,1994
2. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N Engl J Med,2012
3. A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay;Fukai;Am J Med Genet Part A,2014
4. The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21;Khan;Ann Hum Genet,1994
5. Rate, molecular spectrum, and consequences of human mutation;Lynch;Proc Natl Acad Sci USA,2010
Cited by
37 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