Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.
Gould
Douglas B
DB
Walter
Michael A
MA
D001933:Brain Stem / Q000002:abnormalities; D002493:Central Nervous System Diseases / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities; D004252:DNA Mutational Analysis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
C412478:BARHL1 protein, human; C490667:BARX1 protein, human; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D014157:Transcription Factors