𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Biophysical and biochemical studies of the hair in cartilage-hair hypoplasia

✍ Scribed by Collyer Kelling; Lowell A. Goldsmith; Howard P. Baden

Book ID
119838066
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
392 KB
Volume
4
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

RMRP mutations in cartilage-hair hypopla
RMRP mutations in cartilage-hair hypoplasia
✍ Pia Hermanns; Alyssa Tran; Elda Munivez; Susan Carter; Bernhard Zabel; Brendan L πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 128 KB πŸ‘ 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, non‐coding RNA gene __RMRP__. Twenty‐seven CHH patients were referred for molecular evaluation o

Radiologic changes in infancy in McKusic
Radiologic changes in infancy in McKusick cartilage hair hypoplasia
✍ Glass, Ronald B.J.; Tifft, Cynthia J. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 26 KB πŸ‘ 1 views

Cartilage hair hypoplasia (CHH), or metaphyseal dysplasia McKusick type, classically comprises short stature and scant fine hair. In this skeletal dysplasia there is a high incidence of immune deficiency and Hirschsprung disease, as well as a higher rate of malignancy. Clinical findings may be subtl