Whole ARX gene duplication is compatible with normal intellectual development

American Journal of Medical Genetics, Part A

Volumn 164, Issue 9, 2014, Pages 2324-2327

  Popovici, Cornel ^a,b   Busa, Tiffany ^a,b   Boute, Odile ^c   Thuresson, Ann Charlotte ^d   Perret, Odile ^a   Sigaudy, Sabine ^a   Södergren, Tommy ^e   Andrieux, Joris ^c   Moncla, Anne ^a,b   Philip, Nicole ^a,b  

^a TIMONE HOSPITAL   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d UPPSALA UNIVERSITY   (Sweden)

^e Pediatric Clinic   (Sweden)

Author keywords

ARX; Chromosomal microarray analysis; Xp22.13 duplication

Indexed keywords

GENOMIC DNA; ARX PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; ARX GENE; ATTENTION DEFICIT DISORDER; AUTISM; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME INACTIVATION; CHROMOSOME XP; CHROMOSOME XP22; COPY NUMBER VARIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DUPLICATION; GENETIC COMPATIBILITY; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KARYOTYPING; LANGUAGE DELAY; MALE; MENTAL DEVELOPMENT; MICROARRAY ANALYSIS; MICROPHTHALMIA; PCYT1B GENE; POLA1 GENE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SPEECH DELAY; TELOMERE; WECHSLER INTELLIGENCE SCALE; ADULT; CHILD DEVELOPMENT; GENETICS; INTELLIGENCE; NEWBORN; PREGNANCY;

ADULT; CHILD; CHILD DEVELOPMENT; CHILD, PRESCHOOL; FEMALE; GENE DUPLICATION; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; INTELLIGENCE; MALE; PREGNANCY; TRANSCRIPTION FACTORS;

EID: 84905911707     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36564     Document Type: Article

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