CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Autor: L.M. Astuto, J.M. Bork, M.D. Weston, J.W. Askew, R.R. Fields, D.J. Orten, S.J. Ohliger, S. Riazuddin, R.J. Morell, S. Khan, H. Kremer, P. van Hauwe, C.G. Moller, C. W.R.J. Cremers, C. Ayuso, J.R. Heckenlively, K. Rohrschneider, U. Spandau, J. Greenberg, R. Ramesar, W. Reardon, P. Bitoun, J. Millan, R. Legge, T.B. Friedman, W.J. Kimberling

Publikováno v: AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal inter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e1aadffedff26e4faa31c77f72df424
https://europepmc.org/articles/PMC379159/