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

Internet

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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