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Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome

Zhu–Tokita–Takenouchi–Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations, primarily in the central nervous system, a...

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Detalles Bibliográficos
Autores principales:	Vasquez-Forero, Diana Marcela, Masotto, Barbara, Ferrer-Avargues, Rosario, Moya, Christian Martin, Pachajoa, Harry
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354630/ https://www.ncbi.nlm.nih.gov/pubmed/37476413 http://dx.doi.org/10.3389/fgene.2023.1183362

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