Article
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2007
Putcha Girish V, Bejjani Bassem A, Bleoo Stacey, Booker Jessica K, Carey John C, Carson Nancy, Das Soma, Dempsey Melissa A, Gastier-Foster Julie M, Greinwald John H, Hoffmann Marcy L, Jeng Linda Jo Bone, Kenna Margaret A, Khababa Ishrag, Lilley Margaret, Mao Rong, Muralidharan Kasinathan, Otani Iris M, Rehm Heidi L, Schaefer Fred, Seltzer William K, Spector Elaine B, Springer Michelle A, Weck Karen E, Wenstrup Richard J, Withrow Stacey, Wu Bai-Lin, Zariwala Maimoona A, Schrijver Iris
Abstract excerpt
PURPOSE: The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss to help guide diagnostic testing algorithms, especially in light of molecular diagnostic follow-up to universal newborn hearing screening. METHODS: Mutation types, frequencies, ethnic distributions,...
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