A single gene deletion on 4q28.3: PCDH18 - A new candidate gene for intellectual disability?

European Journal of Medical Genetics

Volumn 55, Issue 4, 2012, Pages 274-277

  Kasnauskiene, Jurate ^a   Ciuladaite, Zivile ^a   Preiksaitiene, Egle ^a   Matulevičiene, Aušra ^a   Alexandrou, Angelos ^b   Koumbaris, George ^b   Sismani, Carolina ^b   Pepalyte, Ingrida ^a   Patsalis, Philippos C ^b   Kučinskas, Vaidutis ^a  

^a VILNIUS UNIVERSITY   (Lithuania)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

Array CGH; Del4q28.3; Intellectual disability; PCDH18 gene

Indexed keywords

LAMOTRIGINE; PCDH18 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID;

ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; ASTIGMATISM; CASE REPORT; CELL COMMUNICATION; CHROMOSOME 4; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ECHOGRAPHY; ELECTROENCEPHALOGRAM; FEMALE; FOCAL EPILEPSY; GENE DELETION; HEPATOMEGALY; HUMAN; HYBRIDIZATION; HYDROCEPHALUS; HYPERMETROPIA; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; PSYCHOMOTOR DISORDER; REAL TIME POLYMERASE CHAIN REACTION; SEIZURE;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CADHERINS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; MOLECULAR SEQUENCE DATA;

EID: 84860373500     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.02.010     Document Type: Article

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