Patient expectation: what is comprehensive health care?

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Maaret Ridanpää, Hans van Eenennaam, Katarina Pelin et al. · Cell · 2001 · 509 citations

Cartilage-hair Hypoplasia, Genetics, Rna Biology +10

Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients

Outi Mäkitie, Ilkka Kaitila · European Journal of Pediatrics · 1993 · 202 citations

Medicine, Histopathology, Finnish Patients +2

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP

Maaret Ridanpää, Pertti Sistonen, Susanna Rockas et al. · European Journal of Human Genetics · 2002 · 111 citations · Full text

Major70a→g Mutation, Genetic Disorder, Genetics +8

Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum

Christian T. Thiel, Geert Mortier, Ilkka Kaitila et al. · The American Journal of Human Genetics · 2007 · 92 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +5

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

Luisa Bonafé, Emmanouil T. Dermitzakis, Sheila Unger et al. · PLoS Genetics · 2005 · 71 citations · Full text

Genetics, Genetic Epidemiology, Pathology +23