Article
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.
American journal of human genetics - 7 Nov 2013
Huber Céline, Wu Sulin, Kim Ashley S, Sigaudy Sabine, Sarukhanov Anna, Serre Valérie, Baujat Genevieve, Le Quan Sang Kim-Hanh, Rimoin David L, Cohn Daniel H, Munnich Arnold, Krakow Deborah, Cormier-Daire Valérie
Abstract excerpt
Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period. Presently, m...
Topics
- Carrier Proteins
- Cilia
- Cytoplasmic Dyneins
- Ellis-Van Creveld Syndrome
- Fibroblasts
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Mutation, Missense
- NF-kappa B
- Ribs