Discover Community Create You

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

Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy.

Ophthalmic genetics - 1 Aug 2018

Cervantes Aleck E, Gee Katherine M, Whiting Martha F, Frausto Ricardo F, Aldave Anthony J

Abstract excerpt

PURPOSE: To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a heterozygous deletion of the small leucine-rich proteoglycan (SRLP) genes on chromosome 12. METHODS: Clinical characterization was performed using slit lamp biomicroscopic and optical coherence tomography (OCT) imaging. Genomic DNA was collected from...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

Share to DNA Copy Number Variations

Share to Heterozygote

Share to Pedigree

Share to Sequence Deletion

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 29671669
DOI: 10.1080/13816810.2018.1459736
PMCID: PMC6309915

Genes

DCN
EPYC
KERA
LUM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy.PMID 29671669Read ↗

Posterior Amorphous Corneal Dystrophy Is Associated with a Deletion of Small Leucine-rich Proteoglycans on Chromosome 12Semantic proximity Read ↗

Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.Semantic proximity Read ↗

Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus.Semantic proximity Read ↗

Corneal ectasia associated with posterior lamellar opacification.Semantic proximity Read ↗

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.Semantic proximity Read ↗

The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus.Semantic proximity Read ↗

c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.Semantic proximity Read ↗

Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.Semantic proximity Read ↗

Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.Semantic proximity Read ↗

Transcriptomic Profiling of Posterior Polymorphous Corneal DystrophySemantic proximity Read ↗

Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.Semantic proximity Read ↗

Posterior amorphous corneal dystrophy. A new pedigree with phenotypic variation.Semantic proximity Read ↗

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