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

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

Abstract 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...

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Bibliographic Details
Main Authors: Piero Pavone, Federica Saia, Xena Pappalardo, Massimo Barbagallo, Adriana Prato, Renata Rizzo
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Clinical Case Reports
Subjects:
Chiari malformation type 1
developmental delay
hydrocephalus
SON gene
Zhu‐Tokita‐Tachenouchi‐Kim syndrome (ZTTK)
Online Access:https://doi.org/10.1002/ccr3.6529

Internet

https://doi.org/10.1002/ccr3.6529

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