𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Announcement of the national epidermolysis Bullosa registry

✍ Scribed by Carter, D. Martin ;Opitz, John M.


Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
65 KB
Volume
27
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


The international dystrophic epidermolys
✍ Peter C. van den Akker; Marcel F. Jonkman; Trebor Rengaw; Leena Bruckner-Tuderma πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 353 KB

Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype

The clinical spectrum of epidermolysis b
✍ H.M. Horn; M.J. Tidman πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 208 KB

## Abstract As part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of the 168 known Scottish epidermolysis bullosa simplex (EBS) sufferers. Three subtypes of EBS were recognized: Dowling–Meara (EBS-DM), Weber–Cockayne (EBS-WC)

The prevalence of epidermolysis bullosa
✍ H.M. HORN; G.C. PRIESTLEY; R.A.J. EADY; M.J. TIDMAN πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 385 KB

The prevalence of epidermolysis bullosa (EB) in Britain and most other countries is unknown. Patients suffering from the inherited forms of EB and living in Scotland have been traced. Two hundred and fifty-nine affected people from 76 families have been identified, of whom 211 were clinically assess

Molecular confirmation of the unique phe
✍ A.D. Irvine; E.L. Rugg; E.B. Lane; S. Hoare; C. Peret; A.E. Hughes; A.H. Heagert πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 689 KB

## Background: A distinctive subtype of epidermolysis bullosa simplex, with the additional feature of mottled pigmentation (ebs-mp), was initially characterized in a swedish family in 1979, and seven further families have been reported. features of ebs-mp that are observed in most affected patients