Evidence map›Paper›PMID 42597489›Full record

ArticleFrontiers in cell and developmental biology2026

Clinical and immunological features of a patient exhibiting delayed puberty, microcephaly, scoliosis and epilepsy caused by a novel mutation in

Gao-Hui Cao, Lv Liu, Zhen Liu, Lei Zhu, Na Ta, Yi-Hui Liu, Ai-Qian Zhang, Liang-Liang Fan

Abstract read
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In one paragraph

Article in Frontiers in cell and developmental biology, 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
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0citing papers in PubMed
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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

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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

8 authors.

Gao-Hui Cao *Department of Obstetrics and Gynecology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Lv Liu *Department of Respiratory Medicine, Second Xiangya Hospital of Central South University, Research Unit of Respiratory Disease of Central South University, Clinical Medical Research Center for Pulmonary and Critical Care Medicine in Hunan Province, Diagnosis and Treatment Center of Respiratory Disease in Hunan Province, Hunan Province Evidence-Based Medicine Center, Changsha, Hunan, China.
Zhen Liu *Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou University, Yangzhou, Jiangsu, China.
Lei ZhuDepartment of Obstetrics and Gynecology, Ordos Central Hospital, Ordos, Inner Mongolia, China.
Na TaDepartment of Obstetrics and Gynecology, Ordos Central Hospital, Ordos, Inner Mongolia, China.
Yi-Hui LiuDepartment of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou University, Yangzhou, Jiangsu, China.
Ai-Qian ZhangDepartment of Obstetrics and Gynecology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Liang-Liang FanDepartment of Cell Biology, School of Life Science, Central South University, Changsha, Hunan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Members of the immunoglobulin superfamily (IgSF) are cell-surface proteins essential for a wide range of biological processes, including molecular transport, morphoregulation, and cell differentiation. IGSF10, a member of this family, has been identified as a disease-associated gene in delayed puberty and cleidocranial dysplasia. In this study, a Chinese patient with delayed puberty, microcephaly, scoliosis, and epilepsy was investigated. The genetic defect and immune alterations were assessed using whole-exome sequencing, Sanger sequencing, and single-cell RNA sequencing. After variant filtering, a novel IGSF10 variant, NM_178,822.5:c.4518del (p.His1506Gln fs Ter13), was identified in the proband. Sanger sequencing indicated that this variant was

Indexed as

delayed pubertyIGSF10microcephalyscoliosissingle-cell RNA sequencing

Identifiers

PMID42597489
PMCPMC13469598

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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.