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

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

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...

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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.
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