Article
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
PLoS genetics - 1 Oct 2005
Bonafé Luisa, Dermitzakis Emmanouil T, Unger Sheila, Greenberg Cheryl R, Campos-Xavier Belinda A, Zankl Andreas, Ucla Catherine, Antonarakis Stylianos E, Superti-Furga Andrea, Reymond Alexandre
Abstract excerpt
Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and increased incidence of cancer. Molecular diagnosis of CHH has implications for management, prognosis, follow-up, and genetic counseling of affected patients and their...
Topics
- Animals
- Base Sequence
- Endoribonucleases
- Evolution, Molecular
- Family Health
- Genome
- Genomics
- Heterozygote
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias