Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants

• Main Authors: Stanley M. Kanai (Author), Caleb Heffner (Author), Timothy C. Cox (Author), Michael L. Cunningham (Author), Francisco A. Perez (Author), Aaron M. Bauer (Author), Philip Reigan (Author), Cristan Carter (Author), Stephen A. Murray (Author), David E. Clouthier (Author)
• Format: Book
• Published: The Company of Biologists, 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Auriculocondylar syndrome 2 (ARCND2) is a rare autosomal dominant craniofacial malformation syndrome linked to multiple genetic variants in the coding sequence of phospholipase C β4 (PLCB4). PLCB4 is a direct signaling effector of the endothelin receptor type A (EDNRA)-Gq/11 pathway, which establish...