Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel...
Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants
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England: John Wiley & Sons, Inc
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Language
English
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Publisher
England: John Wiley & Sons, Inc
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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). He...
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Full title
Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants
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TN_cdi_doaj_primary_oai_doaj_org_article_749d71e2659e4e26b93a85d8fac7d1cf
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_749d71e2659e4e26b93a85d8fac7d1cf
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ISSN
2050-0904
E-ISSN
2050-0904
DOI
10.1002/ccr3.6529
