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...

书目详细资料
Main Authors:	Reardon, W, Coffey, R, Phelps, P, Luxon, L, Stephens, D, Kendall-Taylor, P, Britton, K, Grossman, A, Trembath, R
格式:	Journal article
语言:	English
出版:	1997

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