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Article

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

Ophthalmic genetics - 1 Oct 2024

Duzenli Tarik, Uysal Betul Seher, Ulas Berkay, Kayhan Gulsum

Abstract excerpt

BACKGROUND: Geleophysic dysplasia (GD) and Weill-Marchesani syndrome (WMS) are two rare genetic disorders that are classified as acromelic dysplasias and have many common features that overlap clinically and genetically in some patients. Both diseases are characterized by acromelic features, including short stature, brachydactyly, joint limitations, and cardiac involvement. WMS is distinguished from GD mainly by...

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Source

Identifiers

PMID: 39044700
DOI: 10.1080/13816810.2024.2358973

Genes

ADAMTSL2
FBN1

Variants

Provenance

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