14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

European Journal of Human Genetics

Volumn 21, Issue 5, 2013, Pages 522-527

  Ellaway, Carolyn J ^a,b   Ho, Gladys ^a,b   Bettella, Elisa ^a,c   Knapman, Alisa ^a   Collins, Felicity ^a,b   Hackett, Anna ^d,e   McKenzie, Fiona ^d,e,f   Darmanian, Artur ^a   Peters, Gregory B ^a,b   Fagan, Kerry ^f,g   Christodoulou, John ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF PADOVA   (Italy)

^d Hunter Genetics   (Australia)

^e Genetic Services of Western Australia   (Australia)

^f UNIVERSITY OF NEWCASTLE   (Australia)

^g JOHN HUNTER HOSPITAL   (Australia)

Author keywords

14q deletion; Array based comparative genomic hybridisation; Chromosome 14; FOXG1; PRKD1; Rett syndrome

Indexed keywords

NUCLEIC ACID BINDING PROTEIN; PAMIDRONIC ACID; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXG1; TRANSCRIPTION FACTOR PRKD1; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14Q12 MICRODELETION; CLINICAL EXAMINATION; CLINICAL FEATURE; FEMALE; GENE MUTATION; GROWTH RETARDATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SEIZURE;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; HUMANS; MALE; MICROARRAY ANALYSIS; NERVE TISSUE PROTEINS; PHENOTYPE; PROTEIN KINASE C; RETT SYNDROME;

EID: 84876693685     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.208     Document Type: Article

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