ArticleFrontiers in genetics2026
Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Dyskeratosis congenita (DC; OMIM: 127550) is a rare inherited bone marrow failure syndrome. Objective: To evaluate the functional impact of the Methods: Clinical and genetic investigations were performed in a family suspected of DC. Multi-tissue sequencing was conducted in the parents and the proband. To evaluate the functional consequences of the variant, wild-type and p.Thr284Pro mutant Results: Both affected sisters exhibited an incomplete classical DC phenotype, characterized primarily by pancytopenia and nail dystrophy. Genetic analysis identified the same heterozygous Conclusion: This study provides the first clinical-genetic evidence for suspected parental gonadal/gonadosomatic mosaicism of the TINF2 p.Thr284Pro variant, along with exploratory
Indexed as
Identifiers
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.