Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings
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Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a newly described autosomal dominant multisystem developmental disorder resulting from a mutation of the SON gene located on chromosome region 21q22.11. It is characterized by heterogeneous features such as intellec... ...
