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Results 1 - 8 of 8 for Usher syndrome type 1
  1. ... Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. Ophthalmology. 2014 Feb;121( ... Zhao C. Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. PLoS One. 2014 May 15; ...
  2. ... Genetic Testing Registry: Usher syndrome Genetic Testing Registry: Usher syndrome type 1 Genetic Testing Registry: Usher syndrome type 1D Genetic Testing Registry: Usher syndrome type ...
  3. ... Condition USH3 USH3A USH3A_HUMAN Usher syndrome 3A Usher syndrome type 3 protein Tests of CLRN1 PubMed CLARIN 1; CLRN1 NCBI Gene ClinVar Adato A, Vreugde S, ...
  4. ... new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667. Citation on ...
  5. ... novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear Res. 2002 Jan;163(1-2):1-11. doi: 10.1016/s0378-5955(01)00344-6. Citation on PubMed Blanco-Kelly F, Jaijo T, Aller E, ... Ayuso C. Clinical aspects of Usher syndrome and the USH2A gene in a cohort of ...
  6. ... most common form of syndromic retinitis pigmentosa is Usher syndrome, which is ... of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 ...
  7. ... called MCAD deficiency Maple syrup urine disease Mucolipidosis type IV ... Usher syndrome Zellweger spectrum disorder , also called Zellweger syndrome ...
  8. ... is called mixed hearing loss.Depending on the type, nonsyndromic hearing loss can become ... Between 2 and 3 per 1,000 children in the United States are born ...