Article

A de novo mutation of SALL4 in a Chinese family with Duane Radial Ray Syndrome and expanding the phenotypic spectrum

2024-11-20

Abstract excerpt

<h4>Introduction: </h4> : Duane-radial ray syndrome (DRRS), also known as Okihiro syndrome, is a rare autosomal dominant disorder characterized by the association of Duane anomaly and radial ray malformations. <h4>Method: </h4> ： In this study, we report a de novo mutation of the SALL4 gene in a Chinese girl affected by DDRS, leading to an array

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Literature Corpus work: 01d9f3fe-c17b-5456-8f44-cc03d4e8b317
DOI: 10.22541/au.173211009.93338046/v1

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