Molecular analysis of the PDS gene in Pendred syndrome.

Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of syndromic deafness. Within the thyroid gland of affected individuals, iodide is incompletely organified w...

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Những tác giả chính: Coyle, B, Reardon, W, Herbrick, J, Tsui, L, Gausden, E, Lee, J, Coffey, R, Grueters, A, Grossman4, A, Phelps, P, Luxon, L, Kendall-Taylor, P, Scherer, S, Trembath, R
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: 1998