<i>ADAMTSL4</i> ectopia lentis associated with Poland syndrome: a case report

This case highlights the significance of genetic and ocular investigations in Poland syndrome, contributing to knowledge on its broader phenotypic spectrum and potential genetic etiologies. Further research is warranted to elucidate the role of <i>ADAMTSL4</i> in microfibril-related anomalies.

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Publication Details

Journal
Ophthalmic Genetics
Published
2025-09-23
DOI
https://doi.org/10.1080/13816810.2025.2565650
Primary Topic
Pectus Deformity Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report

Allister Lee, Shuan Dai, Daniel Cool
Ophthalmic Genetics
Pectus Deformity Diagnosis and Treatment
article

ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report

Allister Lee, Shuan Dai, Daniel Cool
article en

Abstract

This case highlights the significance of genetic and ocular investigations in Poland syndrome, contributing to knowledge on its broader phenotypic spectrum and potential genetic etiologies. Further research is warranted to elucidate the role of <i>ADAMTSL4</i> in microfibril-related anomalies.

Ophthalmic GeneticsVol. 47(1)
Griffith University (AU), The University of Queensland (AU), Children's Health Queensland Hospital and Health Service (AU)
Openalex Percentile: Top 59%
Pectus Deformity Diagnosis and Treatment
DOISourceOpenAlex
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