PMC:1183529 / 20979-21265 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1183529","sourcedb":"PMC","sourceid":"1183529","source_url":"http://www.ncbi.nlm.nih.gov/pmc/1183529","text":"Sequencing revealed a de novo heterozygote nonsense mutation in a patient who died at birth with severe pulmonary hypoplasia and a posterior deep diaphragmatic eventration. She was clinically diagnosed with CDH. This nonsense mutation occurs prior to the functional zinc finger domains.","tracks":[]}