Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1

American Journal of Medical Genetics

Volumn 107, Issue 3, 2002, Pages 190-196

  Blair, I P ^a   Gibson, R R ^a   Bennett, C L ^a   Chance, P F ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Chromosome 17p11.2; Chromosome 9q34; Genetic heterogeneity; Joubert syndrome

Indexed keywords

ADULT; AGENESIS; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARHL1 GENE; BRAIN MALFORMATION; CEREBELLUM VERMIS; CHROMOSOME 17P; CHROMOSOME 9Q; CLINICAL ARTICLE; COHORT ANALYSIS; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; EN1 GENE; EN2 GENE; EYE MOVEMENT DISORDER; FEMALE; FGF8 GENE; GENE; GENE DELETION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HYPERPNEA; JOUBERT SYNDROME; MALE; MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PEDIGREE; PRIORITY JOURNAL; SMITH MAGENIS SYNDROME;

ABNORMALITIES, MULTIPLE; BRAIN STEM; CEREBELLUM; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 9; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FIBROBLAST GROWTH FACTOR 8; FIBROBLAST GROWTH FACTORS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; LOD SCORE; MALE; MICROSATELLITE REPEATS; NERVE TISSUE PROTEINS; PEDIGREE; SYNDROME;

EID: 0037154038     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10145     Document Type: Article

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