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 variants in PNPLA6 causing syndromic retinal dystrophy.

Experimental eye research - 1 Jan 2021

Wu Shijing, Sun Zixi, Zhu Tian, Weleber Richard G, Yang Paul, Wei Xing, Pennesi Mark E, Sui Ruifang

Abstract excerpt

PNPLA6-related disorders include several phenotypes, such as Boucher-Neuhäuser syndrome, Gordon Holmes syndrome, spastic paraplegia, photoreceptor degeneration, Oliver-McFarlane syndrome and Laurence-Moon syndrome. In this study, detailed clinical evaluations and genetic testing were performed in five (4 Chinese and 1 Caucasian/Chinese) syndromic retinal dystrophy patients. Genotype-phenotype correlations were...

Read the complete abstract on PubMed

Topics

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

Share to Genotyping Techniques
Share to Electroretinography
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phospholipases

Share to Real-Time Polymerase Chain Reaction

Share to Retinal Dystrophies

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 33141049
DOI: 10.1016/j.exer.2020.108327
PMCID: PMC7855329

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

Novel variants in PNPLA6 causing syndromic retinal dystrophy.PMID 33141049Read ↗

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.Semantic proximity Read ↗

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.Semantic proximity Read ↗

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.Semantic proximity Read ↗

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.Semantic proximity Read ↗

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.Semantic proximity Read ↗

Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.Semantic proximity Read ↗

A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.Semantic proximity Read ↗

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.Semantic proximity Read ↗

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.Semantic proximity Read ↗

[A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation].Semantic proximity Read ↗

Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.Semantic proximity Read ↗

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.Semantic proximity Read ↗

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