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

Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population

7 Apr 2022

Abstract excerpt

Schwannomatosis is a rare tumor predisposition syndrome that causes multiple schwannomas. Germline loss-of-function (LoF) LZTR1 variants were only recently identified as disease-causing, so relatively few variants have been identified in patients. In addition, many LoF variants exist in Genome Aggregation Database (gnomAD) in people who do not have clinical symptoms of schwannomatosis. These factors, and the...

Read the complete abstract on PubMed

Topics

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

Share to Chromatin Remodeling and Cancer
Share to Neurofibromatosis and Schwannoma Cases
Share to Sarcoma Diagnosis and Treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35391499
DOI: 10.1002/humu.24376

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general populationPMID 35391499Read ↗

Expanding the mutational spectrum of LZTR1 in schwannomatosis.Semantic proximity Read ↗

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.Semantic proximity Read ↗

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.Semantic proximity Read ↗

Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.Semantic proximity Read ↗

Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.Semantic proximity Read ↗

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.Semantic proximity Read ↗

Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.Semantic proximity Read ↗

LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.Semantic proximity Read ↗

Creation of an international registry to support discovery in schwannomatosis.Semantic proximity Read ↗

Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.Semantic proximity Read ↗

Neurofibromatosis and SchwannomatosisSemantic proximity Read ↗

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.Semantic proximity Read ↗

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