Article

A de novo mutation of SALL4 gene in a Chinese family with Okihiro syndrome

2024-01-31

Abstract excerpt

<h4>Objective: </h4> To analyze the clinical manifestations of a patient with Okihiro syndrome/Duane-radial ray syndrome (DRRS) and his family and to carry out genetic testing in order to specify the biological pathogenesis. <h4>Methods:</h4> Clinical data of the patient and his family were collected. Genomic DNA in the peripheral blood of the proband and his family members was extracted. whole exome were sequence...

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Literature Corpus work: 4cc6e348-f3e1-5084-84a2-4fe476b63b21
DOI: 10.22541/au.170669601.12250192/v1

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