ArticleHuman mutation2026
Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Aims: Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by Methods: Peripheral blood samples were collected from two female twins with HPP and their family members. Genomic DNA was extracted, and variations were detected using whole exome sequencing. Zygosity was confirmed via KING 2.3.1 software. Pathogenic variants were validated using Sanger sequencing, mutation analyses, and bioinformatics. Results: The twins presented with bulging anterior fontanel at 3 months of age. At 6 months, serum ALP levels decreased, and skeletal dysplasia, hypercalcemia, and nephrocalcinosis developed. One twin died of pneumonia at 11 months; the other remained alive beyond 15 months. Monochorionic diamniotic placentation and a twin pair kinship coefficient (0.4879) confirmed monozygosity. Exome sequencing revealed that the twins carried compound heterozygous Conclusion: Compound heterozygous
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.