Pendred syndrome--100 years of underascertainment?

Pendred syndrome--100 years of underascertainment?

Pendred syndrome is an autosomal recessive condition classically characterized by deafness and goitre. Since both cochlear and thyroid pathology are required to secure the diagnosis, it is unclear whether the condition might present without the classical features. The perchlorate discharge test, the...

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Chi tiết về thư mục
Những tác giả chính:	Reardon, W, Coffey, R, Phelps, P, Luxon, L, Stephens, D, Kendall-Taylor, P, Britton, K, Grossman, A, Trembath, R
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	1997

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