5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion ofRASA1andMEF2C: A progressive disease
Author:
Affiliation:
1. Department of Child Neurology; Hospital Italiano de, Buenos Aires; Argentina
2. Department of Molecular and Human Genetics; Baylor College of Medicine; Texas
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37472/fullpdf
Reference20 articles.
1. Refining the phenotype associated with MEF2C point mutations;Bienvenu;Neurogenetics,2013
2. Rasa1: Variable phenotype with capillary-Arteriovenous malformation;Boon;Curr Opin Genet Dev,2005
3. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14. 3-q15 deletion;Cardoso;Neurology,2009
4. 5q14. 3 Neurocutaneous Syndrome: A novel contiguous gene syndrome cause by simultaneous deletion of RASA1 and MEF2C;Carr ChW;Am J Med Genet A,2011
5. QuesIndromees;Cordisco;Dermatol Pediatr Lat,2005
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