Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 2030-2035

  Ballesta Martínez, Maria Juliana ^a   López González, Vanesa ^a   Dulcet, Lluis Armengol ^b   Rodríguez Santiago, Benjamín ^b   Garcia Miñaúr, Sixto ^c   Guillen Navarro, Encarna ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^b Quantitative Genomic Medicine Laboratories   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

Author keywords

14q23.1 duplication; Goldenhar syndrome; Hemifacial microsomia; Oculoauriculovertebral spectrum; OTX2

Indexed keywords

TRANSCRIPTION FACTOR OTX2;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE CONDUCTION HEARING AID; CASE REPORT; CHROMOSOME 14Q23.1 DUPLICATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; COPY NUMBER VARIATION; EXTERNAL AUDITORY CANAL; EXTERNAL EAR MALFORMATION; FAMILY STUDY; FEMALE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOME SIZE; GOLDENHAR SYNDROME; HEARING TEST; HUMAN; KARYOTYPING; LINKAGE ANALYSIS; MACROSTOMIA; MANDIBLE HYPOPLASIA; MANDIBLE OSTEOTOMY; MANDIBULOFACIAL DYSOSTOSIS; MICROARRAY ANALYSIS; MICROGNATHIA; OTX2 GENE; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

14Q23.1 DUPLICATION; GOLDENHAR SYNDROME; HEMIFACIAL MICROSOMIA; OCULOAURICULOVERTEBRAL SPECTRUM; OTX2;

ADULT; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENES, DOMINANT; GOLDENHAR SYNDROME; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; OTX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE;

EID: 84880733377     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36007     Document Type: Article

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