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

Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.

Journal of neurogenetics - 1 Mar 2021

Caglayan Ahmet Okay, Yaghouti Kourosh, Kockaya Tanyel, Kemer Demet, Cankaya Tufan, Ameziane Najim, Cogulu Ozgur, Coker Mahmut, Yalcinkaya Cengiz

Abstract excerpt

To date, less than 10 pedigrees have been reported with ZNF335 mutations since it was discovered in 2012 and little is known about ZNF335-related clinical spectrum. We describe a 12 years old male patient who is only child of nonconsanguineous Turkish parents. Trio whole genome sequencing identified previously unreported compound heterozygous variants in ZNF335, namely, c.3889T > A p.(Ser1297Thr) and c.758G > A...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Basal Ganglia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellum

Share to DNA-Binding Proteins

Share to Magnetic Resonance Imaging

Share to Pedigree

Share to Transcription Factors

Source

Identifiers

PMID: 33216650
DOI: 10.1080/01677063.2020.1833006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.PMID 33216650Read ↗

Expanding the clinical spectrum of biallelic ZNF335 variants.Semantic proximity Read ↗

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.Semantic proximity Read ↗

Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.Semantic proximity Read ↗

Genetics of cerebellar disorders.Semantic proximity Read ↗

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.Semantic proximity Read ↗

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.Semantic proximity Read ↗

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.Semantic proximity Read ↗

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.Semantic proximity Read ↗

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.Semantic proximity Read ↗

Clinical characterization of SPTBN1, SPTBN2, and SPTBN5 variants: A case series and systematic review.Semantic proximity Read ↗

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Semantic proximity Read ↗

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.Semantic proximity Read ↗

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