Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants

Zhu‐Tokita‐Tachenouchi‐Kim syndrome (ZTTK) is a recently recognized malformation syndrome presenting with craniofacial dysmorphism, developmental delay/intellectual disability, seizures, anomalies involving brain white matter, and other body‐organs. In humans, the disorder is linked to the loss‐of‐f...

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Detalles Bibliográficos
Autores principales: Pavone, Piero, Saia, Federica, Pappalardo, Xena, Barbagallo, Massimo, Prato, Adriana, Rizzo, Renata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9755635/
https://www.ncbi.nlm.nih.gov/pubmed/36540882
http://dx.doi.org/10.1002/ccr3.6529

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9755635/
https://www.ncbi.nlm.nih.gov/pubmed/36540882
http://dx.doi.org/10.1002/ccr3.6529

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