Article
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
American journal of medical genetics. Part A - 1 Apr 2017
Romanelli Tavares Vanessa L, Zechi-Ceide Roseli M, Bertola Debora R, Gordon Christopher T, Ferreira Simone G, Hsia Gabriella S P, Yamamoto Guilherme L, Ezquina Suzana A M, Kokitsu-Nakata Nancy M, Vendramini-Pittoli Siulan, Freitas Renato S, Souza Josiane, Raposo-Amaral Cesar A, Zatz Mayana, Amiel Jeanne, Guion-Almeida Maria L, Passos-Bueno Maria Rita
Abstract excerpt
Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal...
Topics
- Adult
- Child
- Ear
- Ear Diseases
- Endothelin-1
- Female
- GTP-Binding Protein alpha Subunits, Gi-Go
- Gene Expression
- Genes, Dominant