Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population. [PDF]
Int Ophthalmol, 2023 Macriz-Romero N +6 more
europepmc +1 more source
High plasma urea concentration in babies with lamellar ichthyosis. [PDF]
, 1986 Ben Zion Garty
openalex +1 more source
Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2 [PDF]
, 2022 Leonie Frommherz +11 more
openalex +1 more source
Indian Journal of Paediatric DermatologyObjective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta +4 more
doaj +1 more source
Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report. [PDF]
Am J Case Rep, 2022 Moustaine MO +3 more
europepmc +1 more source
Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35 [published erratum appears in Hum Mol Genet 1996 Jun;5(6):862-3] [PDF]
, 1996 Laurent Parmentier +5 more
openalex +1 more source
Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation. [PDF]
Indian J Ophthalmol, 2022 Dhakshini LS, Rashmita R, Christy JS.
europepmc +1 more source
Lamellar Ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus [PDF]
, 1999 Laurent Parmentier +9 more
openalex +1 more source
Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report. [PDF]
Pharmgenomics Pers Med, 2022 Zeng J, Shan B, Guo L, Lv S, Li F.
europepmc +1 more source
Compound Heterozygous TGM1 Mutations Including a Novel Missense Mutation L204Q in a Mild Form of Lamellar Ichthyosis [PDF]
, 2001 Masashi Akiyama +5 more
openalex +1 more source