Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.

International ophthalmology - 1 Oct 2023

Macriz-Romero Nicole, Vera-Duarte Guillermo Raul, Guerrero-Becerril Jesus, Chacón-Camacho Oscar Francisco, Astiazarán Mirena C, Zenteno Juan Carlos, Graue-Hernandez Enrique O

Abstract excerpt

PURPOSE: To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. METHODS: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico. RESULTS: Nine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Eyelids
Share to Ichthyosis, Lamellar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mexico

Share to Mutation

Share to Transglutaminases

Source

Open in PubMed Open full text

Identifiers

PMID: 37542530
DOI: 10.1007/s10792-023-02774-3
PMCID: PMC10504104

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.PMID 37542530Read ↗

Ophthalmic Findings in Patients with Autosomal Recessive Lamellar Ichthyosis due to TGM1 Mutations in an Isolated PopulationSemantic proximity Read ↗

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".Semantic proximity Read ↗

High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.Semantic proximity Read ↗

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.Semantic proximity Read ↗

Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.Semantic proximity Read ↗

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.Semantic proximity Read ↗

Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.Semantic proximity Read ↗

Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.Semantic proximity Read ↗

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.Semantic proximity Read ↗

A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability.Semantic proximity Read ↗

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.Semantic proximity Read ↗

Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.