๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12

โœ Scribed by Goldsmith, Tomer; Fuchs-Telem, Dana; Israeli, Shirli; Sarig, Ofer; Padalon-Brauch, Gilly; Bergman, Reuven; Indelman, Margarita; Sprecher, Eli; Nousbeck, Janna


Book ID
120071282
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
467 KB
Volume
22
Category
Article
ISSN
0906-6705

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


ABCA12 mutations and autosomal recessive
โœ Masashi Akiyama ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 341 KB

Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). HI shows the most severe phenotype. CIE and LI are clinically characterized by fine, whitish sca