Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

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 C...

Full description

Bibliographic Details
Main Authors: Luisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, Cheryl R Greenberg, Belinda A Campos-Xavier, Andreas Zankl, Catherine Ucla, Stylianos E Antonarakis, Andrea Superti-Furga, Alexandre Reymond
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2005-10-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC1262189?pdf=render

Internet

http://europepmc.org/articles/PMC1262189?pdf=render

Similar Items