๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Cartilage-hair hypoplasia


Book ID
118535335
Publisher
Elsevier Science
Year
1967
Tongue
English
Weight
545 KB
Volume
70
Category
Article
ISSN
1097-6833

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Cartilage-Hair Hypoplasia
โœ Matesic, Damir; Hagan, John B. ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› Mayo Clinic ๐ŸŒ English โš– 33 KB
Genetic homogeneity of cartilage-hair hy
โœ Tuija Sulisalo; Ineke Burgt; David L. Rimoin; Jaques Bonaventure; David Sillence ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› Springer ๐ŸŒ English โš– 290 KB
RMRP mutations in cartilage-hair hypopla
โœ Pia Hermanns; Alyssa Tran; Elda Munivez; Susan Carter; Bernhard Zabel; Brendan L ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 128 KB ๐Ÿ‘ 2 views

## Abstract Cartilage hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, nonโ€coding RNA gene __RMRP__. Twentyโ€seven CHH patients were referred for molecular evaluation o