Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation

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 · 513 citations

Life Sciences, Genetics, Molecular Genetics +10

An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA

Yoshiko Maida, Mami Yasukawa, Miho Furuuchi et al. · Nature · 2009 · 388 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients

Outi Mäkitie, Ilkka Kaitila · European Journal of Pediatrics · 1993 · 205 citations

Medicine, Dermatology, Genodermatoses +5

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Christian T. Thiel, Denise Horn, Bernhard Zabel et al. · The American Journal of Human Genetics · 2005 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia

Pia Hermanns, Alison A. Bertuch, Terry Bertin et al. · Human Molecular Genetics · 2005 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16