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Article

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Birth defects research - 3 Jul 2017

Accogli Andrea, Traverso Monica, Madia Francesca, Bellini Tommaso, Vari Maria Stella, Pinto Francesca, Capra Valeria

Abstract excerpt

BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance-Horan syndrome is caused by mutations in the NHS gene that is highly expressed in the midbrain, retina, lens,...

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Topics

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Share to Cataract
Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28464487
DOI: 10.1002/bdr2.1032

Genes

NHS
RAI2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Research trail→

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A novel Xp22.13 microdeletion in Nance-Horan syndrome.PMID 28464487Read ↗

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

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

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

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

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

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.Semantic proximity Read ↗

Identification of the gene for Nance-Horan syndrome (NHS).Semantic proximity Read ↗

[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome].Semantic proximity Read ↗

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.Semantic proximity Read ↗

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Semantic proximity Read ↗

[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations].Semantic proximity Read ↗

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

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