European Journal of Dermatology
MENUA case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease Volume 27, numéro 4, July-August 2017
Illustrations
1 Department of Dermatology,
Nagoya University Graduate School of Medicine, 65 Tsurumai-cho,
Showa-ku,
Nagoya 466-8550,
Japan
Nagoya University Graduate School of Medicine, 65 Tsurumai-cho,
Showa-ku,
Nagoya 466-8550,
Japan
3 Department of Pediatrics,
Nagoya University Graduate School of Medicine,
65 Tsurumai-cho,
Showa-ku,
Nagoya 466-8550,
Japan
Nagoya University Graduate School of Medicine,
65 Tsurumai-cho,
Showa-ku,
Nagoya 466-8550,
Japan
a These authors contributed equally
- DOI : 10.1684/ejd.2017.3049
- Page(s) : 438-9
- Année de parution : 2017
The transglutaminase 1 (TGM1) gene is a major causative gene of autosomal recessive congenital ichthyoses (ARCI), including lamellar ichthyosis (LI), congenital ichthyosiform erythroderma, self-healing/self-improving collodion baby, and bathing suit ichthyosis (BSI) [1, 2]. Additionally, a mutation in the epidermal lipase N gene (LIPN) was found to cause a late-onset form of ARCI [3]. To date, 12 genes responsible for ARCI have been identified: TGM1, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, SDR9C7, [...]