Evidence map›Paper›PMID 40364812›Full record

ArticleFrontiers in pediatrics2025

Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report.

Linlin Bao, Qian Li, Zhicao Yue, Fang Yang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

4 authors.

Linlin Bao *Department of Dermatology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, Guangdong, China.
Qian Li *Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, Sixth Medical Center, Chinese PLA General Hospital, Beijing, China.
Zhicao YueDepartment of Cell Biology and Medical Genetics, International Cancer Center, and Guangdong Key Laboratory for Genome Stability and Disease Prevention, Shenzhen University Medical School, Shenzhen, Guangdong, China.
Fang YangDepartment of Dermatology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, Guangdong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Lanosterol synthase (LSS) is essential for cholesterol biosynthesis and impacts embryonic development and growth. Case presentation: Herein, we report an 8-year-old boy presenting with congenital hypotrichosis and intermittent exotropia, but without any ocular movement abnormalities or cataracts. His hair exhibited sparse distribution with a yellow color, reduced strength, and minimal growth. Scanning electron microscopy revealed abnormal keratinization of the hair shafts, characterized by irregular, jagged scales and raised edges. Whole-exome sequencing identified compound heterozygous missense variants in the Conclusion: We present a rare case of

Indexed as

genetic diagnosisgenotype-phenotypehypotrichosisLSSstrabismus

Identifiers

PMID40364812
PMCPMC12069456

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.