Article
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
American journal of human genetics - 5 Sept 2013
McInerney-Leo Aideen M, Schmidts Miriam, Cortés Claudio R, Leo Paul J, Gener Blanca, Courtney Andrew D, Gardiner Brooke, Harris Jessica A, Lu Yeping, Marshall Mhairi, Scambler Peter J, Beales Philip L, Brown Matthew A, Zankl Andreas, Mitchison Hannah M, Duncan Emma L, Wicking Carol
Abstract excerpt
Short-rib polydactyly syndromes (SRPS I-V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have a...
Topics
- Adaptor Proteins, Signal Transducing
- Amino Acid Sequence
- Animals
- Base Sequence
- Child, Preschool
- Chondrocytes
- Chromosome Segregation
- Cilia
- Ellis-Van Creveld Syndrome
- Fatal Outcome
- Female
- Fetus
- Fibroblasts