A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features

European Journal of Medical Genetics

Volumn 55, Issue 12, 2012, Pages 695-699

  Floor, Karijn ^a,c   Barøy, Tuva ^a,b   Misceo, Doriana ^a,b   Kanavin, Øivind J ^b   Fannemel, Madeleine ^b   Frengen, Eirik ^a,b  

^a UNIVERSITY OF OSLO   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

11q13.1q13.2 deletion; CFL1; CNIH2; Intellectual disability; NPAS4

Indexed keywords

COFILIN 1;

ARTICLE; BIPOLAR DISORDER; BIRTH WEIGHT; BODY DYSMORPHIC DISORDER; BODY HEIGHT; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 11Q13.1; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CONVERGENT STRABISMUS; CORNICHON HOMOLOGUE 2 GENE; FAMILY HISTORY; FLATFOOT; GENE; GENE EXPRESSION; GENE INACTIVATION; GILLES DE LA TOURETTE SYNDROME; HEAD CIRCUMFERENCE; HUMAN; HYPERMETROPIA; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; LEARNING DISORDER; MALE; NEURONAL PAS DOMAIN CONTAINING PROTEIN 4 GENE; NORWAY; PREECLAMPSIA; PSYCHOMOTOR DISORDER; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; FACIES; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MALE; PHENOTYPE;

ANIMALIA; MUS;

EID: 84869889684     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.08.002     Document Type: Article

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