Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction Article Swipe
Jodi Warman‐Chardon
,
Taila Hartley
,
Aren E. Marshall
,
Arran McBride
,
Madeline Couse
,
William MacDonald
,
Mellissa R.W. Mann
,
Pierre R. Bourque
,
Ari Breiner
,
Hanns Lochmüller
,
John Woulfe
,
Marcos Loreto Sampaio
,
Gerd Melkus
,
Bernard Brais
,
David A. Dyment
,
Kym M. Boycott
,
Kristin D. Kernohan
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1212/nxg.0000000000200088
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1212/nxg.0000000000200088
Our findings associate SOX8 variants with this novel condition, highlight how complex genome regulation can complicate novel disease-gene identification, and provide insight into the molecular pathogenesis of this disease.
Related Topics
Concepts
Biology
Genetics
Short stature
Compound heterozygosity
Global developmental delay
Phenotype
Gene
Endocrinology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1212/nxg.0000000000200088
- https://ng.neurology.org/content/nng/9/5/e200088.full.pdf
- OA Status
- gold
- Cited By
- 2
- References
- 40
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4386856301
All OpenAlex metadata
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https://openalex.org/W4386856301Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1212/nxg.0000000000200088Digital Object Identifier
- Title
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Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-09-19Full publication date if available
- Authors
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Jodi Warman‐Chardon, Taila Hartley, Aren E. Marshall, Arran McBride, Madeline Couse, William MacDonald, Mellissa R.W. Mann, Pierre R. Bourque, Ari Breiner, Hanns Lochmüller, John Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A. Dyment, Kym M. Boycott, Kristin D. KernohanList of authors in order
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https://doi.org/10.1212/nxg.0000000000200088Publisher landing page
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https://ng.neurology.org/content/nng/9/5/e200088.full.pdfDirect link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://ng.neurology.org/content/nng/9/5/e200088.full.pdfDirect OA link when available
- Concepts
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Biology, Genetics, Short stature, Compound heterozygosity, Global developmental delay, Phenotype, Gene, EndocrinologyTop concepts (fields/topics) attached by OpenAlex
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2Total citation count in OpenAlex
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2025: 2Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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