Publication2022
Ellis-van Creveld syndrome with homozygous deletions in exons 1 to 11 of the EVC gene and exons 1 to 22 of the EVC2gene
The record
- Type
- Publication
- Date
- 1 January 2022
- Level
- National
- Journal
- Sri Lanka Journal of Child Health
- Volume
- 51
- Issue
- 2
- Pages
- 313-315
- Published
- 1 January 2022
- DOI
- 10.4038/sljch.v51i2.10149
- Scopus ID
- 85131449087
- ISSN
- 13915452
- Authors
- 5
- Open access
- Yes
- Citations
- 0
- International co-authorship
- No
- Co-author countries
- IN
Classification
Every label below carries the reasoning it was assigned on, the confidence band it was assigned in, and what produced it. The rubric is published.
UN Sustainable Development Goals
3 Ensure healthy lives and promote well-being for all at all ages
Case report documents genetic pathophysiology of Ellis-van Creveld syndrome with multiple systemic manifestations including cardiac and skeletal defects.
- Moderate confidence
- The alignment is plausible and defensible but rests on an assumption a reasonable reviewer could decline. Published, and surfaced in the review queue for a human to confirm or override.
- Judged
- Judged against the published classification rubric, under the rubric and prompt versions recorded with the run that produced it.
- Produced by
- claude-haiku-4-5-20251001, under kortex-publication-v1
Viksit Bharat @2047
vb-1.2 Health and well-being
Rare genetic disorder documentation contributes to understanding of congenital health conditions.
- Produced by
- claude-haiku-4-5-20251001, under kortex-publication-v1
Each label above carries the instrument and the version that produced it. How each classification is reached.
Evidence
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Provenance
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- Source rows resolved into this record
- 1
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Citing this record
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KIIT Deemed to be University. “Ellis-van Creveld syndrome with homozygous deletions in exons 1 to 11 of the EVC gene and exons 1 to 22 of the EVC2gene”. Kortex.