Article
Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.
Clinical endocrinology - 1 Apr 1996
Gausden E, Armour J A, Coyle B, Coffey R, Hochberg Z, Pembrey M, Britton K E, Grossman A, Reardon W, Trembath R
Abstract excerpt
OBJECTIVE: Pendred's syndrome is an association between congenital neurosensory deafness and goitre with abnormal discharge of iodide following perchlorate challenge, indicating a defect of iodide organification. Although Pendred's syndrome may cause up to 7.5% of all cases of congenital deafness, the molecular basis of the association between the hearing loss and the thyroid organification defect remains...
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