Article
Mutations in NOTCH1 cause Adams-Oliver syndrome.
American journal of human genetics - 4 Sept 2014
Stittrich Anna-Barbara, Lehman Anna, Bodian Dale L, Ashworth Justin, Zong Zheyuan, Li Hong, Lam Patricia, Khromykh Alina, Iyer Ramaswamy K, Vockley Joseph G, Baveja Rajiv, Silva Ermelinda Santos, Dixon Joanne, Leon Eyby L, Solomon Benjamin D, Glusman Gustavo, Niederhuber John E, Roach Jared C, Patel Millan S
Abstract excerpt
Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key developmental systems, human mutations in Notch signaling components have mainly been described in disorders with vascular and bone effects. Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Animals
- Child, Preschool
- Ectodermal Dysplasia
- Female
- Humans
- Infant
- Limb Deformities, Congenital