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

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.

Journal of Zhejiang University. Science. B - 1 Jan 2014

Yin Hou-fa, Fang Xiao-yun, Jin Chong-fei, Yin Jin-fu, Li Jin-yu, Zhao Su-juan, Miao Qi, Song Feng-wei

Abstract excerpt

OBJECTIVE: Axenfeld-Rieger syndrome (ARS) is phenotypically and genetically heterogeneous. In this study, we identified the underlying genetic defect in a Chinese family with ARS. METHODS: A detailed family history and clinical data were recorded. The ocular phenotype was documented using slit-lamp photography and systemic anomalies were also documented where available. The genomic DNA was extracted from...

Read the complete abstract on PubMed

Topics

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

Share to Anterior Eye Segment
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Eye Diseases, Hereditary

Share to Frameshift Mutation

Share to Genetic Markers

Share to Homeobox Protein PITX2

Share to Homeodomain Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 24390743
DOI: 10.1631/jzus.B1300053
PMCID: PMC3891117

Genes

PITX2
FOXC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.PMID 24390743Read ↗

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Haploinsufficiency of PITX2 in Four Chinese Families With Axenfeld-Rieger Syndrome.Semantic proximity Read ↗

Complex genomic rearrangement with deletion of PITX2 in a Chinese family with Axenfeld-Rieger syndrome: A case report and literature review.Semantic proximity Read ↗

A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.Semantic proximity Read ↗

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.Semantic proximity Read ↗

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

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