Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and question mark ear. Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1–EDNRA pathway during early pharyngeal arch pa...

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Pubblicato in:Eur J Hum Genet
Autori principali: Romanelli Tavares, Vanessa L, Gordon, Christopher T, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy Mizue, Voisin, Norine, Tan, Tiong Y, Heggie, Andrew A, Vendramini-Pittoli, Siulan, Propst, Evan J, Papsin, Blake C, Torres, Tatiana T, Buermans, Henk, Capelo, Luciane Portas, den Dunnen, Johan T, Guion-Almeida, Maria L, Lyonnet, Stanislas, Amiel, Jeanne, Passos-Bueno, Maria Rita
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666574/
https://ncbi.nlm.nih.gov/pubmed/25026904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.132
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