D
del C-Salcedó Cabrera M
Publications - 1
Citations - 474
del C-Salcedó Cabrera M is an academic researcher. The author has contributed to research in topics: PCDH15 & CDH23. The author has an hindex of 1, co-authored 1 publications receiving 449 citations.
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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
Hanno J. Bolz,von Brederlow B,Alfredo Ramirez,Elizabeth C. Bryda,Kerstin Kutsche,Hans Gerd Nothwang,Mathias W. Seeliger,del C-Salcedó Cabrera M,Vila Mc,Molina Op,Andreas Gal,Christian Kubisch +11 more
TL;DR: The data show that different mutations in CDH23 result in USH1D with a variable retinal phenotype, and it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse.