Introduction and clinical aspects in Usher syndromes
نویسندگان
چکیده
منابع مشابه
The usher syndromes.
Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndrome (USH), a clinically heterogeneous autosomal recessive disorder comprising hearing and visual ...
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IMPORTANCE A new statistical approach is needed to describe the clinical differences between type I and type II Usher syndrome and between the 2 most frequent mutations in the USH2A gene. OBJECTIVES To describe the primary phenotypic characteristics and differences between type I and type II Usher syndrome and to establish a phenotype-genotype correlation for the 2 most frequent mutations in ...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2019
ISSN: 1755-375X,1755-3768
DOI: 10.1111/j.1755-3768.2019.8097