Article
Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Apr 2006
Dostal Ales, Nemeckova Jitka, Gaillyova Renata, Vranova Vladimira, Zezulkova Dita, Lejska Mojmir, Slapak Ivo, Dostalova Zuzana, Kuglik Petr
Abstract excerpt
OBJECTIVE: 18q deletion syndrome is a multiple-anomaly mental retardation syndrome associated with congenital aural atresia. The purpose of this study was to determine the frequency of the congenital aural atresia phenotype in 18q deletion syndrome patients and to delineate a potential critical r...
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