Article
NEK1 mutations cause short-rib polydactyly syndrome type majewski.
American journal of human genetics - 7 Jan 2011
Thiel Christian, Kessler Kristin, Giessl Andreas, Dimmler Arno, Shalev Stavit A, von der Haar Sigrun, Zenker Martin, Zahnleiter Diana, Stöss Hartmut, Beinder Ernst, Abou Jamra Rami, Ekici Arif B, Schröder-Kress Nadja, Aigner Thomas, Kirchner Thomas, Reis André, Brandstätter Johann H, Rauch Anita
Abstract excerpt
Defects of ciliogenesis have been implicated in a wide range of human phenotypes and play a crucial role in signal transduction and cell-cycle coordination. We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to identify mutations in...
Topics
- Cell Cycle Proteins
- Chromosome Mapping
- Cilia
- Cytoplasmic Dyneins
- DNA Repair
- Female
- Genes, Recessive
- Heterozygote
- Humans
- Male
- Mutation