Article

Identification of a Frameshift Mutation in SON Gene via Whole Exome Sequencing in a Patient With ZTTK Syndrome

2021-02-09

Abstract excerpt

<title>Abstract</title> <p><bold>Backgrounds: </bold>Since the association between SON gene and Zhu-Tokita-Takenouchi-Kim (ZTTK, OMIM 617140) is formally recognized, the purpose of this study is to detailed report a Chinese girl with clinical features and SON variant. The other aim is to review the previously published papers of ZTTK syndromes to summarize the clinical and genetic characteristics to provide guida...

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Literature Corpus work: 84afafb4-0a4a-57ae-a226-499c052d54f7
DOI: 10.21203/rs.3.rs-191620/v1

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