Horizontal gaze palsy with progressive scoliosis: Three novel robo3 mutations and descriptions of the phenotypes of four patients

Molecular Vision

Volumn 17, Issue , 2011, Pages 1978-1986

  Volk, Alexander E ^a,b,c   Carter, Oliver ^a,b   Fricke, Julia ^a   Herkenrath, Peter ^a   Poggenborg, Jörg ^a   Borck, Guntram ^a,b,c   Demant, Andre W ^a   Ivo, Roland ^a   Eysel, Peer ^a   Kubisch, Christian ^a,b,c   Neugebauer, Antje ^a  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CORPUS CALLOSUM; DNA DETERMINATION; DUANE RETRACTION SYNDROME; EXON SKIPPING; EYE MOVEMENT; EYE SURGERY; FEMALE; GAZE PARALYSIS; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS; HUMAN; INFANT; INTRON; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTOKINETIC STIMULATION; PHENOTYPE; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; ROBO3 GENE; SCHOOL CHILD; SCOLIOSIS; SEQUENCE HOMOLOGY; VISUAL ACUITY;

ADOLESCENT; BASE SEQUENCE; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OCULAR MOTILITY DISORDERS; PEDIGREE; PHENOTYPE; RECEPTORS, IMMUNOLOGIC; SAUDI ARABIA; SCOLIOSIS; SIBLINGS; TURKEY; VISION TESTS;

EID: 79960702127     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

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