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Article

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.

American journal of medical genetics. Part A - 1 Jun 2025

Alavanda Ceren, Arslan Ateş Esra, Demir Şenol, Polat Hamza, Hanoğlu Onur, Arman Ahmet, Geçkinli Bilgen Bilge

Abstract excerpt

Nance-Horan Syndrome (NHS) is an ultra-rare syndrome characterized by facial dysmorphism, teeth, and eye abnormalities. Pathogenic variants in NHS are responsible for NHS. Herein, we report four Turkish patients from two unrelated families having dysmorphic facial features, congenital bilateral cataracts, and dental anomalies. Molecular studies revealed two novel hemizygous (c.136_137del; p.Leu46Glyfs*136 and...

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Source

Identifiers

PMID: 39902773
DOI: 10.1002/ajmg.a.64008

Genes

NHS
AIPL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.PMID 39902773Read ↗

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

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

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

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

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

A Novel Frameshift Mutation in The NHS Gene Causes Nance-Horan Syndrome in a Chinese FamilySemantic proximity Read ↗

Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome.Semantic proximity Read ↗

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

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

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

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