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

Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

Ophthalmic genetics - 1 Sept 2009

Ding Xiaoyan, Patel Mrinali, Herzlich Alexandra A, Sieving Pamela C, Chan Chi-Chao

Abstract excerpt

BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies due in most cases to a mutation in the NHS gene. MATERIAL AND METHODS: We present a case of clinical manifestation and ocular pathology in a patient with NHS. This article also reviews and discusses the...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Cataract
Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Nuclear Proteins

Share to Retinal Degeneration

Share to Syndrome

Share to Tooth Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 19941417
DOI: 10.1080/13816810902822021
PMCID: PMC2791400

Genes

NHS

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

Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.PMID 19941417Read ↗

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.Semantic proximity Read ↗

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new familiesSemantic proximity Read ↗

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.Semantic proximity Read ↗

Leveraging genetic testing for cataract diagnosis: novel NHS variant guides the diagnosis to Nance-Horan syndrome, a case study.Semantic proximity Read ↗

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).Semantic proximity Read ↗

Nance-Horan Syndrome: Characterization of dental, clinical and molecular features in three new familiesSemantic proximity Read ↗

Identification of three novel NHS mutations in families with Nance-Horan syndrome.Semantic proximity Read ↗

A Turkish family with Nance-Horan Syndrome due to a novel mutation.Semantic proximity Read ↗

A novel Xp22.13 microdeletion in Nance-Horan syndrome.Semantic proximity Read ↗

Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Semantic proximity Read ↗

Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review.Semantic proximity Read ↗

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.Semantic proximity Read ↗

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