PubMed:2817003
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/2817003","sourcedb":"PubMed","sourceid":"2817003","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/2817003","text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 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