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

• প্রধান লেখক: Stanley M. Kanai (লেখক), Caleb Heffner (লেখক), Timothy C. Cox (লেখক), Michael L. Cunningham (লেখক), Francisco A. Perez (লেখক), Aaron M. Bauer (লেখক), Philip Reigan (লেখক), Cristan Carter (লেখক), Stephen A. Murray (লেখক), David E. Clouthier (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: The Company of Biologists, 2022-04-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...