Autosomal Dominant Progressive Sensorineural Hearing Loss Due to a Novel Mutation in the KCNQ4 Gene
Arnett, Jameson, Emery, Sarah B, Kim, Theresa B, Boerst, Angelique K, Lee, Kwanghyuk, Leal, Suzanne M, Lesperance, Marci M
Published in Archives of otolaryngology--head & neck surgery (01.01.2011)
Published in Archives of otolaryngology--head & neck surgery (01.01.2011)
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Journal Article
Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin
Brown, David J., Kim, Theresa B., Petty, Elizabeth M., Downs, Catherine A., Martin, Donna M., Strouse, Peter J., Moroi, Sayoko E., Milunsky, Jeff M., Lesperance, Marci M.
Published in American journal of human genetics (01.09.2002)
Published in American journal of human genetics (01.09.2002)
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Journal Article