Rhombencephalosynapsis: Fused cerebellum, confused geneticists
Author:
Affiliation:
1. Center for Integrative Brain Research; Seattle Children's Research Institute; Seattle WA
2. Department of Pediatrics; University of Washington; Seattle WA
3. Department of Neurology; University of Washington; Seattle Washington
Funder
National Human Genome Research Institute
National Institute of Child Health and Human Development
National Institute of Neurological Disorders and Stroke
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.c.31666/fullpdf
Reference40 articles.
1. Teaching video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis;Accogli;Neurology,2018
2. Rhombencephalosynapsis;Barth;Handbook of Clinical Neurology,2008
3. Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings;Chemli;European Journal of Paediatric Neurology,2007
4. The genetic basis of Mendelian phenotypes: Discoveries, challenges, and opportunities;Chong;American Journal of Human Genetics,2015
5. Gomez-Lopez-Hernandez syndrome in a child born to consanguineous parents: New evidence for an autosomal-recessive pattern of inheritance?;Mattos;Pediatric Neurology,2014
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