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

"Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".

Ophthalmic genetics - 1 Apr 2020

Garza-Garza Lucas Antonio, León-Cachón Rafael Baltazar Reyes, Aguirre-Garza Marcelino, Garza-Leon Manuel

Abstract excerpt

Purpose: Vitelliform Macular Dystrophy is an inherited autosomal dominant disease with variable expressivity, caused by a mutation in the BEST1 gene. We report a family with variable expressivity and incomplete penetrance in its members.Materials and Methods: A Mexican family was studied. It was comprised of six individuals (father, mother, and four children). A clinical history was taken, and a complete...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Bestrophins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Pedigree

Share to Penetrance

Share to Prognosis

Share to Vitelliform Macular Dystrophy

Source

Identifiers

PMID: 32207364
DOI: 10.1080/13816810.2020.1744020

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

"Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".PMID 32207364Read ↗

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.Semantic proximity Read ↗

BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.Semantic proximity Read ↗

A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.Semantic proximity Read ↗

NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.Semantic proximity Read ↗

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.Semantic proximity Read ↗

Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.Semantic proximity Read ↗

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.Semantic proximity Read ↗

Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.Semantic proximity Read ↗

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.Semantic proximity Read ↗

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.Semantic proximity Read ↗

Adult-Onset Foveomacular Vitelliform Dystrophy with a Novel BEST1 Variant: A Case Report and Multimodal Imaging CharacterizationSemantic proximity Read ↗

Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.Semantic proximity Read ↗

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