Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder

Ophthalmic Genetics

Volumn 34, Issue 1-2, 2013, Pages 90-96

  Abu Amero, Khaled K ^a,b   Kondkar, Altaf A ^a   Salih, Mustafa A M ^a   Alorainy, Ibrahim A ^a   Khan, Arif O ^c   Oystreck, Darren T ^a   Bosley, Thomas M ^a  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^c KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

Author keywords

Array comparative genomic hybridization; Congenital hearing impairment; Duane retraction syndrome; HOXA1 spectrum; Mental retardation; Seizures

Indexed keywords

HOXA1 PROTEIN; PROTEIN TYROSINE PHOSPHATASE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; CASE REPORT; CHILD; CHROMOSOME 7 DUPLICATION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; DNA DETERMINATION; DUANE RETRACTION SYNDROME; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEARING IMPAIRMENT; HOXA1 SPECTRUM DISORDER; HUMAN; MALE; MENTAL DEFICIENCY; NEUROIMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE;

AUTOANTIGENS; BRAIN STEM; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSIS, DIFFERENTIAL; DNA COPY NUMBER VARIATIONS; DUANE RETRACTION SYNDROME; HEARING LOSS, SENSORINEURAL; HOMEODOMAIN PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM MALFORMATIONS; OCULAR MOTILITY DISORDERS; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTOR-LIKE PROTEIN TYROSINE PHOSPHATASES, CLASS 8; TRANSCRIPTION FACTORS;

EID: 84876069531     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.718850     Document Type: Article

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