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

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...

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Veröffentlicht in:Journal of medical genetics 1997-02, Vol.34 (2), p.126-129
Hauptverfasser: Gausden, E, Coyle, B, Armour, J A, Coffey, R, Grossman, A, Fraser, G R, Winter, R M, Pembrey, M E, Kendall-Taylor, P, Stephens, D, Luxon, L M, Phelps, P D, Reardon, W, Trembath, R
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Sprache:eng
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