ArticleClinical case reports2020
A case series of a mother and two daughters with a
Article in Clinical case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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
11 citing papers in PubMed, 13 citations in OpenAlex.
- [Culler-Jones syndrome polymorphism].Problemy endokrinologii · 2025Article
- A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.BMC pediatrics · 2025Article
- Recent advances in the diagnosis and molecular pathogenesis of holoprosencephaly: a review.Journal of applied genetics · 2025Article
- De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum.Molecular genetics & genomic medicine · 2025Article
- Case Report: A case of Culler-Jones syndrome caused byFrontiers in pediatrics · 2025Article
- Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.Endocrine connections · 2023Article
- Exome sequencing improves genetic diagnosis of congenital orofacial clefts.Frontiers in genetics · 2023Article
- Case report: A case of Culler-Jones syndrome caused by a novel mutation ofFrontiers in endocrinology · 2023Review
- A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involvingClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- A case series of a mother and two daughters with aClinical case reports · 2020Article
- Combined pituitary hormone deficiency with a novel GLI2 frameshift variant.Pediatrics international : official journal of the Japan Pediatric SocietyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance.
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.