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

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.

International journal of molecular sciences - 22 Jul 2021

Kohl Susanne, Baumann Britta, Dassie Francesca, Mayer Anja K, Solaki Maria, Reuter Peggy, Kühlewein Laura, Wissinger Bernd, Maffei Pietro

Abstract excerpt

Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, or ATF6. We undertook molecular genetic analysis in a single female patient with a clinical diagnosis of ACHM and...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Chromosomes, Human, Pair 2

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

Share to Color Vision Defects

Share to Cyclic Nucleotide-Gated Cation Channels

Share to Fathers

Share to Genes, Recessive

Share to Pedigree

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 34360608
DOI: 10.3390/ijms22157842
PMCID: PMC8346044

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.PMID 34360608Read ↗

THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.Semantic proximity Read ↗

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.Semantic proximity Read ↗

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.Semantic proximity Read ↗

Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.Semantic proximity Read ↗

Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.Semantic proximity Read ↗

[Genetic analysis of a Chinese pedigree affected with Achromatopsia due to variants of CNGA3 gene and a literature review].Semantic proximity Read ↗

CNGA3 mutations in two United Arab Emirates families with achromatopsia.Semantic proximity Read ↗

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.Semantic proximity Read ↗

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.Semantic proximity Read ↗

Five novel CNGB3 gene mutations in Polish patients with achromatopsia.Semantic proximity Read ↗

Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient.Semantic proximity Read ↗

Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature.Semantic proximity Read ↗

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