The ring 14 syndrome

European Journal of Medical Genetics

Volumn 55, Issue 5, 2012, Pages 374-380

  Zollino, Marcella ^a   Ponzi, Emanuela ^a   Gobbi, Giuseppe ^b   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

Author keywords

Focal epilepsy; Phenotypic map; Ring chromosome 14

Indexed keywords

VISUAL PIGMENT;

BEHAVIOR DISORDER; CAFE AU LAIT SPOT; CATARACT; CHROMOSOME 14Q; CYTOGENETICS; DISEASE SEVERITY; ECHOLALIA; ELECTROENCEPHALOGRAM; EPILEPSY; EYE DISEASE; FACE ASYMMETRY; FIBROBLAST; FOLLOW UP; GENE DELETION; GENE DUPLICATION; GENETIC DISORDER; GENOTYPE; GLAUCOMA; HAPLOINSUFFICIENCY; INFECTION SENSITIVITY; INTELLECTUAL IMPAIRMENT; MICROCEPHALY; MUSCLE HYPOTONIA; MYOPIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERINATAL PERIOD; PHENOTYPE; PULMONARY ARTERY OCCLUSION; RETINA; RETINA DISEASE; RETINA MACULOPATHY; RETINITIS PIGMENTOSA; REVIEW; RING 14 SYNDROME; SCOLIOSIS; SHORT STATURE; STRABISMUS;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; PHENOTYPE; RING CHROMOSOMES; SEIZURES; SEQUENCE DELETION; SYNDROME;

EID: 84862231814     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.03.009     Document Type: Review

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