Evidence map›Paper›PMID 42382131›Full record

ArticleFrontiers in genetics2026

Novel variants in LSS related hypotrichosis simplex 14.

Shengyuan Hua, Biqing Fang, Yile Cheng, Xinhui Zhang, Yulin Zhang, Qiufang Qian, Jia Zhang

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.

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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

7 authors.

Shengyuan Hua *Department of Dermatology, Shanghai Children's Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai, China.
Biqing Fang *Department of Dermatology, QuanZhou Women's and Children's Hospital, Quanzhou, China.
Yile Cheng *Department of Dermatology, Shanghai City Qingpu District of Zhujiajiao People's Hospital, Shanghai, China.
Xinhui ZhangShanghai Municipal Hospital of Traditional Chinese Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Yulin ZhangDepartment of Dermatology, Yueyang Hospital of Integrative Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Qiufang QianDepartment of Dermatology, Shanghai Children's Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai, China.
Jia ZhangDepartment of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of gene variants, with onset in childhood. Few studies regarding Methods: In this study, we tried to make a definite diagnosis in two Chinese pediatric patients clinically suspected of congenital hypotrichosis. Peripheral blood samples of these two patients and their parents were collected and whole-exome sequencing (WES) was performed to elucidate the genetic cause. WES revealed four different compound heterozygous variants in Results: Two previously reported variants,c.1054G>A; p.(Gly352Arg) and c.1303C>T; p.(Arg435Cys) were observed and two novel heterozygous variants,c.1594G>C; p.(Glu532Gln) and c.1010C>T; p.(Pro337Leu) were found in these 2 HS patients. Conclusion: In this study, we successfully identified variants in

Indexed as

Chinesehypotrichosis simplexLSSnovel variantsteeth dysplasia

Identifiers

PMID42382131
PMCPMC13318249

What Socratic holds

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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 Socratic graph.