Ontology highlight
ABSTRACT:
SUBMITTER: Feenstra I
PROVIDER: S-EPMC3234381 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Feenstra Ilse I Vissers Lisenka E L M LE Pennings Ronald J E RJ Nillessen Willy W Pfundt Rolph R Kunst Henricus P HP Admiraal Ronald J RJ Veltman Joris A JA van Ravenswaaij-Arts Conny M A CM Brunner Han G HG Cremers Cor W R J CW
American journal of human genetics 20111201 6
Congenital aural atresia (CAA) can occur as an isolated congenital malformation or in the context of a number of monogenic and chromosomal syndromes. CAA is frequently seen in individuals with an 18q deletion, which is characterized by intellectual disability, reduced white-matter myelination, foot deformities, and distinctive facial features. Previous work has indicated that a critical region for CAA is located in 18q22.3. We studied four individuals (from two families) with CAA and other featu ...[more]