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 VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

14 Jan 2010

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Fetal and Pediatric Neurological Disorders
Share to RNA modifications and cancer
Share to RNA regulation and disease

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20082205
DOI: 10.1007/s10048-009-0232-y

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

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyPMID 20082205Read ↗

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.Semantic proximity Read ↗

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.Semantic proximity Read ↗

The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients.Semantic proximity Read ↗

Mutations in <i>VLDLR</i> as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)Semantic proximity Read ↗

Clinical, Radiological and Genetic Variation In Pontocerebellar Hypoplasia Disorder & Our Clinical ExperienceSemantic proximity Read ↗

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Semantic proximity Read ↗

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.Semantic proximity Read ↗

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Semantic proximity Read ↗

[A case report and literature review of pontocerebellar hypoplasia type 13 combined with abnormal liver function caused by VPS51 gene variation].Semantic proximity Read ↗

Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.Semantic proximity Read ↗

Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12.Semantic proximity Read ↗

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.Semantic proximity Read ↗

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