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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2022-12-01
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Series: | Clinical Case Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/ccr3.6529 |