Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome [2]

American Journal of Medical Genetics

Volumn 131 A, Issue 2, 2004, Pages 205-208

  Gould, Douglas B ^a,b   Walter, Michael A ^b  

^a JACKSON LABORATORY   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; BARHL1 GENE; BARX1 GENE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME 9Q; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; GENE; GENE EXPRESSION; GENE SEQUENCE; HUMAN; INFANT; JOUBERT SYNDROME; LETTER; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

BRAIN STEM; CENTRAL NERVOUS SYSTEM DISEASES; CEREBELLUM; DNA MUTATIONAL ANALYSIS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NERVE TISSUE PROTEINS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 9644269163     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30227     Document Type: Letter

References (22)

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