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

MFSD8 gene mutations; evidence for phenotypic heterogeneity

4 Mar 2019

Abstract excerpt

BACKGROUND: Cone-rod dystrophies are a group of genetically and phenotypically heterogeneous inherited degenerative retinal diseases primarily affecting macular and cone system function. MFSD8 loss-of-function variants are mainly related to the variant late-infantile neuronal ceroid lipofuscinoses which present with progressive motor and mental regression in combination with seizures, ataxia, and visual...

Read the complete abstract on PubMed

Topics

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

Share to Erythrocyte Function and Pathophysiology
Share to Lysosomal Storage Disorders Research
Share to Retinal Development and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31006324
DOI: 10.1080/13816810.2019.1592200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MFSD8 gene mutations; evidence for phenotypic heterogeneityPMID 31006324Read ↗

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.Semantic proximity Read ↗

Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.Semantic proximity Read ↗

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.Semantic proximity Read ↗

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.Semantic proximity Read ↗

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.Semantic proximity Read ↗

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial VariabilitySemantic proximity Read ↗

A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy.Semantic proximity Read ↗

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Semantic proximity Read ↗

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.Semantic proximity Read ↗

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.Semantic proximity Read ↗

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.Semantic proximity Read ↗

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