A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.

Sonja HofstetterMonika WelleDaniela GorgasPierre BalmerPetra RoosjeThomas MockMireille MeylanVidhya JagannathanCord Drögemüller

Published in: Veterinary dermatology (2017)

A causative mutation for a sporadic phenotype resembling human tricho-dento-osseous syndrome was identified after detection of a de novo germline mutation in the DLX3 gene.

Keyphrases

endothelial cells
case report
late onset
genome wide
induced pluripotent stem cells
gene expression
oxidative stress
transcription factor
early onset
real time pcr
genome wide identification
sensitive detection