Disease: brachydactyly (PMID:23093776)
Dysfunction type: expression
Description: Silencing of the lncRNA, PTHLH, or SOX9 revealed a feedback mechanism involving an expression-dependent network in humans. In the BDE patients, the human lncRNA was upregulated by the disrupted chromosomal association.
Function Mechanism: NA (PMID:23093776)
Biological Process: pathogenic process