Oculo-auricular syndrome caused by a novel <i>HMX1</i> frameshift variant: a case report

In this study, a novel frameshift variant in the HMX1 gene was identified in a patient with oculo-auricular syndrome, thereby contributing to the literature and further highlighting the importance of molecular testing.

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Publication Details

Journal
Ophthalmic Genetics
Published
2026-02-24
DOI
https://doi.org/10.1080/13816810.2026.2635612
Primary Topic
melanin and skin pigmentation
Type
article
Field-Weighted Citation Impact
0.00
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article

Oculo-auricular syndrome caused by a novel HMX1 frameshift variant: a case report

Behiye Tuğçe Yıldırım, Metin Eser
Ophthalmic Genetics
melanin and skin pigmentation
article

Oculo-auricular syndrome caused by a novel HMX1 frameshift variant: a case report

Behiye Tuğçe Yıldırım, Metin Eser
article en

Abstract

In this study, a novel frameshift variant in the HMX1 gene was identified in a patient with oculo-auricular syndrome, thereby contributing to the literature and further highlighting the importance of molecular testing.

Ophthalmic Genetics
University of Health Science (KH)
Openalex Percentile: Top 43%
melanin and skin pigmentation
DOISourceOpenAlex
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