Evidence map›Paper›PMID 41798197›Full record

ArticleFrontiers in endocrinology2026

Novel

Yan Gong, MingYu Jiang, ShengNan Wu, Sheng Guo, YongFen Lyu

Abstract readCase Reports
In one paragraph

Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Yan Gong *Department of Endocrinology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
MingYu Jiang *Department of Endocrinology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
ShengNan WuDepartment of Molecular Laboratory, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Sheng GuoDepartment of Endocrinology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
YongFen LyuDepartment of Endocrinology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Human Methods: Clinical information was collected on a boy with microcephaly and severe growth restriction, including birth history, clinical features, unplanned response to recombinant human growth hormone treatment, and five-year follow-up after growth hormone discontinuation. The child underwent trio-based whole-exome sequencing and Sanger sequencing to validate the mutation. Constructed variant plasmids were used for Results: The boy was born at full term, with substantial growth retardation from infancy to early childhood. At the age of 4.5 years, the child with syndromic short stature was prescribed recombinant human growth hormone for height correction by junior resident physicians, with no genetic evaluation performed prior to treatment. After 5 years and 9 months of recombinant human growth hormone treatment, genetic analysis was done due to his evident microcephaly and distinctive facial features. Two novel variants (p.His1269Argfs2 and p.Ser844Asn) were identified in the Conclusion: In the current study, we identified and characterized a patient with two

Indexed as

Acid Anhydride HydrolasesDNA-Binding ProteinsHuman Growth HormoneMicrocephalyMutationNijmegen Breakage SyndromeChildChild, PreschoolDNA Repair EnzymesGrowth DisordersHumansMaleRecombinant ProteinsAcid Anhydride HydrolasesDNA-Binding ProteinsDNA Repair EnzymesHuman Growth HormoneRAD50 protein, humanRecombinant ProteinsmicrocephalyNijmegen Breakage Syndrome-like diseaseRAD50 mutationrecombinant human growth hormoneshort stature

Identifiers

PMID41798197
PMCPMC12961580

What OpenQuestion holds

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Registered trials

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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.