Article

A heterozygous variant of SON gene in child with ZTTKS

2024-04-19

Abstract excerpt

<title>Abstract</title> <p>Background Zhu-Tokita-Takenouchi-Kim syndrome (ZTTKS) is a rare, autosomal dominant genetic disorder caused by the variant of SON gene. Till now, only about 60 cases of ZTTKS were reported to date worldwide. Most pediatricians have limited knowledge about the disease, which leads to delays usually in diagnosis. Case presentation: A girl with feeding difficulties, hypotonia, and poor o...

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Literature Corpus work: 3eb216f5-02b0-56c1-9e79-b81d0835ba47
DOI: 10.21203/rs.3.rs-4252291/v1

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