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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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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1997
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050865/
https://ncbi.nlm.nih.gov/pubmed/9039988
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