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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Detalles Bibliográficos
Autores principales: Kanai, Stanley M., Heffner, Caleb, Cox, Timothy C., Cunningham, Michael L., Perez, Francisco A., Bauer, Aaron M., Reigan, Philip, Carter, Cristan, Murray, Stephen A., Clouthier, David E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9066496/
https://www.ncbi.nlm.nih.gov/pubmed/35284927
http://dx.doi.org/10.1242/dmm.049320

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