Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

Journal article

Pendred syndrome is the association between congenital sensorineural deafness and goitre. The disorder is characterised by the incomplete discharge of radioiodide from a primed thyroid following perchlorate challenge. However, the molecular basis of the association between hearing loss and a defect in organification of iodide remains unclear. Pendred syndrome is inherited as an autosomal recessive trait and has recently been mapped to 7q31 coincident with the non-syndromic deafness locus DFNB...

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Authors: Gausden, E; Coyle, B; Armour, J; Coffey, R; Grossman, A

• Publication status: Published
• Journal: Journal of medical genetics
• Volume: 34
• Issue: 2
• Pages: 126-129
• Publication date: 1997-02-01
• DOI: 10.1136/jmg.34.2.126
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Pedigree; Female; Cohort Studies; Adult; Middle Aged; Microsatellite Repeats; Male; Chromosomes, Human, Pair 7; Child; Genetic Linkage; Chromosome Mapping; Goiter; Humans; Adolescent; Genetic Heterogeneity; Child, Preschool; Deafness