Usher's and Hallgren's Syndromes

作者：S. Merin, F.A. Abraham, Edgar Auerbach · 发表于：Acta geneticae medicae et gemellologiae · 年份：1974 · DOI：10.1017/s1120962300023623 · 被引用次数：54 · 研究领域：RNA regulation and disease、Hearing, Cochlea, Tinnitus, Genetics、Retinal Development and Disorders

A study has been made of 35 patients belonging to 20 families, all diagnosed as Usher's syndrome (retinitis pigmentosa and deafness). The results indicate that there are four clinical types, which have been called Types I to IV. Genetically, they represent at least two, and possibly three or four, separate entities.