Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.

The article presents a case study of a 10-year old female and her 28-year old father of Polish origin, who were affected by isolated Brachydactyly type E (BDE). Their genomic DNA was extracted from peripheral blood leukocytes, and the sequences of the primers were used for amplification and sequencing polymerase chain reaction (PCR) chemistry. They bother carried a nonsense heterozygous mutation in the HOXD13 gene.