A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walk...
A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
Tubulinopathies are associated with malformations of cortical development but not Walker-Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker-Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks...
Alternative Titles
Full title
A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11353499
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11353499
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes15081031
