Homozygosity mapping of a third Joubert syndrome locus to 6q23

Background: Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxia and cognitive impairment, characteristic neuroimaging findings (cerebellar vermis hypoplasia, “molar tooth sign”) and suggestive facial featur...

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Veröffentlicht in:	Journal of medical genetics 2004-04, Vol.41 (4), p.273-277
Hauptverfasser:	Lagier-Tourenne, C, Boltshauser, E, Breivik, N, Gribaa, M, Bétard, C, Barbot, C, Koenig, M
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adolescent Adult Age Ataxia Ataxia - diagnosis Biological and medical sciences cerebellar ataxia Cerebellar Ataxia - diagnosis cerebello-oculo-renal syndrome cerebello-oculo-renal syndromes Chromosome Mapping Chromosomes Chromosomes, Human, Pair 6 CORS Cysts Developmental Disabilities - diagnosis Eye movements Face - abnormalities Families & family life Female Genetic Linkage Genetics Genomes Genotype Haplotypes homozygosity mapping Homozygote Humans Joubert syndrome Life Sciences Male Malformations of the nervous system Medical imaging Medical sciences molar tooth sign Muscle Hypotonia - diagnosis Mutation Neurology Patients Pedigree Short Report Syndrome
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