Article
Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome.
Disease models & mechanisms - 1 Aug 2015
Schock Elizabeth N, Chang Ching-Fang, Struve Jaime N, Chang Ya-Ting, Chang Julie, Delany Mary E, Brugmann Samantha A
Abstract excerpt
Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects. In addition, these individuals have several other characteristic abnormalities that are typical of a ciliopathy, including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellum. Recently, a...
Topics
- Animals
- Avian Proteins
- Cell Cycle Proteins
- Cell Differentiation
- Cell Movement
- Cell Proliferation
- Chick Embryo
- Chickens
- Cilia
- Disease Models, Animal
- Humans