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

Domain-specific phenotypes in LINS1-related disorder-A Chinese family with the Q92X variant and literature review.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2024

Li Xu-Ying, Wang Zhanjun, Yang Yanping, Lin Ruichai, Wang Chaodong

Abstract excerpt

LINS1 is the human homolog of the Drosophila segment polarity gene that encodes an essential regulator of the wingless/Wnt signaling. By 2011, only seven pedigrees (16 patients) with eight causative variants in LINS1 gene have been reported. These cases mainly presented with infancy-/child-onset neurodevelopmental disorders, facial dysmorphia, and other clinical features, and a wide spectrum of clinically...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Intellectual Disability

Share to Neurodevelopmental Disorders

Share to Proteins

Source

Identifiers

PMID: 38563234
DOI: 10.1002/ajmg.c.32085

Genes

LINS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Domain-specific phenotypes in LINS1-related disorder-A Chinese family with the Q92X variant and literature review.PMID 38563234Read ↗

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.Semantic proximity Read ↗

[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].Semantic proximity Read ↗

Identification of a Novel Nonsense Homozygous Mutation of LINS1 Gene in Two Sisters With Moderate Intellectual Disability, Schizophrenia, and Anxiety Disorders and Review of the LiteratureSemantic proximity Read ↗

Identification of two novel variants in NUS1 gene in two unrelated Chinese families with intellectual disorder and epilepsySemantic proximity Read ↗

Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.Semantic proximity Read ↗

A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.Semantic proximity Read ↗

Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety.Semantic proximity Read ↗

Hypotrichosis 14: Novel variants of the LSS gene in five Chinese families and insights from literature reviewSemantic proximity Read ↗

[Analysis of clinical phenotypes and genetic variations in a Chinese family affected with craniofacial and skeletal deformities].Semantic proximity Read ↗

A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.Semantic proximity Read ↗

A Chinese Family with Noonan Syndrome Associated with a Heterozygous LZTR1 MutationSemantic proximity Read ↗

A Novel ZMIZ1 Pathogenic Variant in a Chinese Girl with Neurodevelopmental Disorder and Review of the LiteratureSemantic proximity Read ↗

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