A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF 2A
Article Swipe
Guoling Tian
,
Ana G. Cristancho
,
Holly Dubbs
,
Grant T. Liu
,
Nicholas J. Cowan
,
Ethan M. Goldberg
·
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1002/mgg3.236
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1002/mgg3.236
Findings support the pathogenic link between KIF2A mutation and lissencephaly, and expand the range of presentation to include infantile spasms and congenital anomalies.
Related Topics
Concepts
Lissencephaly
Mutation
Medicine
Global developmental delay
Genetics
Biology
Pediatrics
Neuroscience
Phenotype
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/mgg3.236
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.236
- OA Status
- gold
- Cited By
- 21
- References
- 12
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2524455785
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W2524455785Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/mgg3.236Digital Object Identifier
- Title
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A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of
KIF 2AWork title - Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2016Year of publication
- Publication date
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2016-09-28Full publication date if available
- Authors
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Guoling Tian, Ana G. Cristancho, Holly Dubbs, Grant T. Liu, Nicholas J. Cowan, Ethan M. GoldbergList of authors in order
- Landing page
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https://doi.org/10.1002/mgg3.236Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.236Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.236Direct OA link when available
- Concepts
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Lissencephaly, Mutation, Medicine, Global developmental delay, Genetics, Biology, Pediatrics, Neuroscience, Phenotype, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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21Total citation count in OpenAlex
- Citations by year (recent)
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2024: 2, 2023: 3, 2022: 2, 2021: 4, 2020: 5Per-year citation counts (last 5 years)
- References (count)
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12Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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