Evidence map›Paper›PMID 41332506›Full record

ArticleClinical, cosmetic and investigational dermatology2025

Autosomal Recessive Woolly Hair Caused by

Can Cui, Xi Chen, Ying-Zi Zhang, Jian-Yi Ni, Jin-Yuan Ma, Ai-Hua Wei

Abstract read
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In one paragraph

Article in Clinical, cosmetic and investigational dermatology, 2025. 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

6 authors.

Can Cui *Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, People's Republic of China.ORCID 0009-0000-7291-8150
Xi Chen *Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, People's Republic of China.
Ying-Zi ZhangDepartment of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, People's Republic of China.
Jian-Yi NiDepartment of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, People's Republic of China.
Jin-Yuan MaDepartment of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, People's Republic of China.ORCID 0009-0004-4337-7702
Ai-Hua WeiDepartment of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Autosomal recessive woolly hair (ARWH) is a rare genetic disorder characterized by tightly curled, sparse hair with variable degrees of hypopigmentation and slow growth. Pathogenic variants in the Methods: Six unrelated patients with congenital woolly hair were analyzed. Clinical features were assessed by examination, trichoscopy, and scalp biopsy. Whole-exome sequencing (WES) and Sanger confirmation were performed, and variants were classified according to ACMG guidelines. Results: All patients presented with sparse, curly hair since early childhood. WES identified biallelic Conclusion: This study broadens the understanding of

Indexed as

autosomal recessive woolly hairChinese populationgenotype-phenotype correlationhypotrichosisLIPH gene

Identifiers

PMID41332506
PMCPMC12667422

What Socratic holds

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LicenceCC BY-NC
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Registered trials

None linked

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.