5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion ofRASA1andMEF2C: A progressive disease

Refining the phenotype associated with MEF2C point mutations

(2012) Thierry Bienvenu et al.   NEUROGENETICS

Refining the phenotype associated withMEF2Chaploinsufficiency

(2010) F Novara et al.   CLINICAL GENETICS

A Novel Association betweenRASA1Mutations and Spinal Arteriovenous Anomalies

(2009) R. Thiex et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

(2009) Hartmut Engels et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations

(2008) D. Hershkovitz et al.   BRITISH JOURNAL OF DERMATOLOGY

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

(2008) C. Cardoso et al.   NEUROLOGY