Article
Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.
International journal of dermatology - 1 Apr 2012
Fachal Laura, Rodríguez-Pazos Laura, Ginarte Manuel, Beiras Andrés, Suárez-Peñaranda José M, Toribio Jaime, Carracedo Ángel, Vega Ana
Abstract excerpt
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare, nonsyndromic, heterogeneous disorder of cornification. It is divided into three clinical subtypes: lamellar ichthyosis (LI); congenital ichthyosiform erythroderma; and harlequin ichthyosis. In the majority of patients, LI is caused by transglutaminase-1 (TGase1) deficiency resulting from mutations in both copies of the transglutaminase 1...
Topics
- Carrier State
- Child
- DNA Mutational Analysis
- Female
- Humans
- Ichthyosis, Lamellar
- Mutation
- Transglutaminases