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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Bibliografski detalji
Izdano u:Eur J Hum Genet
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
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Article
Online pristup: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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