Evidence map›Paper›PMID 40457931›Full record

ArticleDermatology reports2026

Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the

Khalid Alwunais, Jamal Alqahtani, Abdullah Aljalfan, Hadeel Alotaibi

Abstract read
In one paragraph

Article in Dermatology reports, 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

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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

4 authors.

Khalid AlwunaisDermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam.
Jamal AlqahtaniDermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam.
Abdullah AljalfanDermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam.
Hadeel AlotaibiDermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam.ORCID 0000-0003-1150-9788

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a hereditary hair disorder characterized by sparse, short, and curly hair. Mutations in the Lipase H (LIPH) gene, LPAR6, or other genes cause this hereditary hair condition. We report a case of an 11-month-old Saudi boy who presented to our dermatology clinic at King Fahad University Hospital in Al-Khobar (Saudi Arabia) with short, non-growing hair since birth. DNA sequencing revealed a homozygous mutation in the LIPH gene at c.280_369dup. Our patient was diagnosed with ARWH/H resulting from a homozygous mutation in LIPH.

Indexed as

autosomal recessiveHypotrichosisLipase Hwoolly hair

Identifiers

PMID40457931
PMCPMC13055154

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.