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Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings

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 intellectual disability, facial dysmorphisms, po...

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Detalles Bibliográficos
Autores principales:	Eid, Maya, Bhatia, Sonal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9661544/ https://www.ncbi.nlm.nih.gov/pubmed/36387043 http://dx.doi.org/10.1177/2329048X221119658

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