Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy. [PDF]
Front Genet, 2022 Zhang L +9 more
europepmc +1 more source
Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis. [PDF]
Pan Afr Med JTamgadge A, Gomase K.
europepmc +1 more source
Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis. [PDF]
Clin Case Rep, 2021 Tang H, Shi X, Zhang G.
europepmc +1 more source
Bullying in Children With Congenital Ichthyosis. [PDF]
Pediatr DermatolRustad AM +6 more
europepmc +1 more source
Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis. [PDF]
Int J Mol Sci, 2022 Chulpanova DS +5 more
europepmc +1 more source
Supplemental Figure LegendSupplemental Figure 1. Autosomal recessive congenital ichthyosis (Harlequin ichthyosis, ABCA12 genetic mutation) subject with parrot beak nails and pachyonychia of the fingernails. Supplemental Figure 2.
Curtis, K (via Mendeley Data)
core +1 more source
Eye involvement in a series of 94 young patients with congenital ichthyosis: Importance of early ophthalmological referral. [PDF]
JAAD IntBlanco-Calvo N +4 more
europepmc +1 more source
Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy. [PDF]
Front Genet, 2022 Zhang L +9 more
europepmc +1 more source
Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography
, 2011 Harlequin fetus is a rare and mostly fatal form of congenital ichthyosis that can be diagnosed by fetal skin biopsy in patients with a family history of the disease.
core
Maximal use of 0.05% topical isotretinoin in patients with congenital ichthyosis results in low systemic exposure. [PDF]
Br J Clin PharmacolSchneider H +10 more
europepmc +1 more source