The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23

Clinical Genetics

Volumn 65, Issue 2, 2004, Pages 137-142

  Lo, B ^a   Faiyaz Ul Haque, M ^a   Banwell, B ^a   Blaser, S ^a   Paterson, A D ^a,b   Tsui, L C ^a,c   Teebi, Ahmad S ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Autosomal recessive; Brainstem hypoplasia; Horizontal gaze palsy; Linkage analysis; Scoliosis

Indexed keywords

ABDUCENS NUCLEUS; ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEVELOPMENT; BRAIN STEM; CASE REPORT; CHROMOSOME 11Q; CLINICAL EXAMINATION; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; ELECTROMYOGRAM; FEMALE; GAZE PARALYSIS; GENE LOCUS; GENE MAPPING; GENETIC MARKER; HOMOZYGOSITY; HUMAN; HYPOPLASIA; KARYOTYPING; MALE; MUSCLE BIOPSY; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SCOLIOSIS;

ADOLESCENT; BRAIN STEM; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; HUMANS; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; OCULAR MOTILITY DISORDERS; PEDIGREE; SCOLIOSIS;

EID: 1242341213     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00201.x     Document Type: Article

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