Article
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
American journal of human genetics - 1 Jan 2001
Bork J M, Peters L M, Riazuddin S, Bernstein S L, Ahmed Z M, Ness S L, Polomeno R, Ramesh A, Schloss M, Srisailpathy C R, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan S N, Kaloustian V M, Li X C, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance W E, Liu X Z, Wistow G, Smith R J, Griffith A J, Wilcox E R, Friedman T B, Morell R J
Abstract excerpt
Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal rece...
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