Article
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
American journal of human genetics - 4 May 2012
Rieder Mark J, Green Glenn E, Park Sarah S, Stamper Brendan D, Gordon Christopher T, Johnson Jason M, Cunniff Christopher M, Smith Joshua D, Emery Sarah B, Lyonnet Stanislas, Amiel Jeanne, Holder Muriel, Heggie Andrew A, Bamshad Michael J, Nickerson Deborah A, Cox Timothy C, Hing Anne V, Horst Jeremy A, Cunningham Michael L
Abstract excerpt
Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear malformation. Careful phenotypic characterization of severely affected probands in our cohort suggested the presence of a mandibular patterning defect resulting in a maxillary phenotype...
Topics
- Amino Acid Sequence
- Cohort Studies
- Ear
- Ear Diseases
- Endothelin-1
- Exome
- Female
- GTP-Binding Protein alpha Subunits, Gi-Go
- Gene Expression Regulation