Concepedia

An effective case of growth hormone treatment on cartilage-hair hypoplasia

Daisuke Harada, Yoshitaka Yamanaka, Koso Ueda, Junya Shimizu, Masaru Inoue, Yoshiki Seino, Hiroyuki Tanaka

Bone · 2005 · 20 citations · 17 references

DOI

Concepts

References

17

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

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DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.

V A McKusick, R Eldridge, John A. Hostetler et al. · PubMed · 1965 · 269 citations

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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 · 113 citations

, , +8

Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP

James N. Topper, David A. Clayton · Nucleic Acids Research · 1990 · 109 citations · Full text

, , +15

Increased incidence of cancer in patients with cartilage-hair hypoplasia

Outi Mäkitie, ­Eero Pukkala, L Teppo et al. · The Journal of Pediatrics · 1999 · 99 citations

, , +9