The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

Neurology

Volumn 70, Issue 7, 2008, Pages 556-565

  Zaki, M S ^a   Abdel Aleem, A ^a   Abdel Salam, G ^a   Marsh, S E ^b   Silhavy, J L ^b   Barkovich, A J ^c   Ross, M E ^d   Saleem, S N ^e   Dobyns, W B ^f   Gleeson, J G ^b,g  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d WEILL CORNELL MEDICAL COLLEGE   (United States)

^e CAIRO UNIVERSITY   (Egypt)

^f UNIVERSITY OF CHICAGO   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AH11 GENE; APRAXIA; ATAXIA; BREATHING DISORDER; CEREBELLUM DISEASE; CLINICAL FEATURE; DIAGNOSTIC VALUE; EGYPT; FACE DYSMORPHIA; GENE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; JOUBERT SYNDROME; KIDNEY DISEASE; LIVER DISEASE; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MOLAR TOOTH SIGN; NEONATAL HYPOTONIA; NEUROIMAGING; NEWBORN DISEASE; POLYDACTYLY; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINA DISEASE; REVIEW; ARTICLE; ATROPHY; CEREBELLUM; CHROMOSOME DISORDER; CHROMOSOME MAP; CLASSIFICATION; ECHOGRAPHY; FEMALE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; MALE; MULTIPLE MALFORMATION SYNDROME; MUTATION; NERVE TRACT; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; PREDICTION AND FORECASTING; RETINA DEGENERATION; SYNDROME;

ABNORMALITIES, MULTIPLE; ATROPHY; CEREBELLAR DISEASES; CEREBELLUM; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; EGYPT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; KIDNEY DISEASES; LIVER DISEASES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEURAL PATHWAYS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; RETINAL DEGENERATION; SYNDROME;

EID: 40349116350     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000277644.12087.fd     Document Type: Review

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