Evidence map›Paper›PMID 42703585›Full record

ArticleFrontiers in genetics2026

Identification of a novel and a recurrent

Ying Zhao, Yiyang Fu, Shuying Zhang, Yuxin Han, Jinhui Zhu, Wanqi Liu, Shuxian Li, Dan Xiao, Yuan Liu, Lin Wang and 23 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

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.

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

33 authors.

Ying Zhao *Department of Pediatric Endocrinology and Metabolism, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University, Northwest Women's and Children's Hospital, Xi'an, China.
Yiyang Fu *Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Shuying ZhangDepartment of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Yuxin HanDepartment of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Jinhui ZhuDepartment of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Wanqi LiuDepartment of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Shuxian LiCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Dan XiaoCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Yuan LiuCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Lin WangCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Ruixue ZhangCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Wenjing ChengCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Kaitao RenDepartment of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Xiaorui ZhangDepartment of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Mingyue ChenDepartment of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.
AbdullahDepartment of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Umm-E- KalsoomDepartment of Biochemistry, Hazara University, Mansehra, Pakistan.
Nousheen BibiDepartment of Bioinformatics, Shaheed Benazir Bhutto Women University, Peshawar, Pakistan.
Saadullah KhanDepartment of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Pakistan.
Fengni FanCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Ting JiaCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Xiangdong LinCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Wei LiCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Zhao LiCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Gen NishimuraDepartment of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Takahiro YamadaDivision of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.
Na CaiCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Chisa ShukunamiDepartment of Molecular Biology and Biochemistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Zhiqiang TianSchool of Software Engineering, Xi'an Jiaotong University, Xi'an, China.
Xiaoxu ChenCollege of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Shiro IkegawaLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Rong QiangCenter of Medical Genetics, Northwest Women's and Children's Hospital, The Affiliated Northwest Women's and Children's Hospital of Xi'an Jiaotong University Health Science Center, Northwest Women's and Children's Hospital, Xi'an, China.
Long GuoDepartment of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Meier-Gorlin syndrome 7 (MGORS7) is a rare autosomal recessive disorder characterized by primordial dwarfism, craniosynostosis, and patellar aplasia, caused by pathogenic variants of Methods: Clinical and radiological data were collected. Whole-genome sequencing and Sanger sequencing were performed to identify and validate the causative variants. Their functional effects were investigated using an exon-trapping assay, and a literature review of previously reported MGORS7 cases was conducted. Results: Genetic analysis identified two compound heterozygous Discussion: Our study further expanded the mutational spectrum of

Indexed as

CDC45growthgrowth hormoneMeier-Gorlin syndromeshort stature

Identifiers

PMID42703585
PMCPMC13546744

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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.