Clinical and genetic aspects of the Joubert syndrome: A disorder characterised by cerebellar vermian hypoplasia and accompanying brainstem malformations

Current Genomics

Volumn 4, Issue 2, 2003, Pages 123-129

  Bennett, C L ^a   Meuleman, J ^a   Chance, P F ^a   Glass, I A ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 8; GENE PRODUCT; PROTEIN EN1; PROTEIN EN2; UNCLASSIFIED DRUG; WNT PROTEIN;

ALLELE; APNEA; ARIMA SYNDROME; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEVELOPMENT; BRAIN MALFORMATION; BRAIN STEM; CEREBELLAR ATAXIA; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHROMOSOME 9Q; CHROMOSOME MAP; CLINICAL EXAMINATION; CLINICAL FEATURE; COACH SYNDROME; COLOBOMA; CONSANGUINEOUS MARRIAGE; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; ETHNOLOGY; EYE MOVEMENT; FACE DYSMORPHIA; FEMALE; GENE ISOLATION; GENE LOCUS; GENE SEGREGATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOTYPE; HOMEOBOX; HOMOZYGOSITY; HUMAN; HYPERPNEA; JOUBERT SYNDROME; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; RETINA DYSTROPHY; REVIEW; SENIOR LOKEN SYNDROME;

ATAXIA;

EID: 0037302196     PISSN: 13892029     EISSN: None     Source Type: Journal    
DOI: 10.2174/1389202033350083     Document Type: Review

References (28)

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