De novo microdeletion of 5q14.3 excludingMEF2Cin a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

(2011) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C

(2010) Siren Berland et al.   CLINICAL DYSMORPHOLOGY

Refining the phenotype associated withMEF2Chaploinsufficiency

(2010) F Novara et al.   CLINICAL GENETICS

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

(2010) I. Filges et al.   JOURNAL OF MEDICAL GENETICS

Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder

(2009) Nara Sobreira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

TULIP1 (RALGAPA1) haploinsufficiency with brain development delay

(2009) Keiko Shimojima et al.   GENOMICS

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

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

(2008) C. Cardoso et al.   NEUROLOGY