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- W4311689089 abstract "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 loss‐of‐function variants in the SON gene (MIM# 617140). Herewith, a new case of this syndrome is reported in a 2‐year‐old Caucasian child who presented the classical clinical features of the ZTTK syndrome in association with hydrocephalus and Chiari malformations type 1 an anomaly previously unreported. Exome analysis showed a de novo heterozygous variant in SON gene. Literature review of similar cases is reported." @default.
- W4311689089 created "2022-12-28" @default.
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- W4311689089 date "2022-12-01" @default.
- W4311689089 modified "2023-09-25" @default.
- W4311689089 title "Novel malformations: Chiari type 1 and hydrocephalus in <scp>Zhu‐Tokita‐Takenouchi‐Kim</scp> syndrome and novel <scp><i>SON</i></scp> variants" @default.
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- W4311689089 doi "https://doi.org/10.1002/ccr3.6529" @default.
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