Radiological malformations of the ear in Pendred syndrome.

Pendred syndrome comprises the association of severe congenital sensorineural deafness with thyroid pathology. Although it is the commonest form of syndromic hearing loss, the primary genetic defect remains unknown. The variable clinical presentation allied to the difficulty in securing the diagnosi...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Phelps, P, Coffey, R, Trembath, R, Luxon, L, Grossman, AB, Britton, K, Kendall-Taylor, P, Graham, J, Cadge, B, Stephens, S, Pembrey, M, Reardon, W
Формат: Journal article
Хэл сонгох:English
Хэвлэсэн: 1998