Evidence map›Paper›PMID 41035785›Full record

ReviewInternational journal of genomics2025

Compound Heterozygous Null Variants in

Jeerawan Klangjorhor, Mallika Pomrop, Patcharawadee Thongkumkoon, Nonthanan Moonsan, Ratchadaporn Khiaomai, Arnat Pasena, Pathacha Suksakit, Chulabhorn Pruksachatkun, Maliwan Tengsujaritkul

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in International journal of genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Prenatal Identification of a NovelClinical case reports · 2026
    Article
  3. Compound Heterozygous Null Variants inInternational journal of genomics · 2025
    Review
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

9 authors.

Jeerawan KlangjorhorCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, cmu.ac.th.ORCID https://orcid.org/0000-0002-4992-5296
Mallika PomropDepartment of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, cmu.ac.th.ORCID https://orcid.org/0000-0001-7203-5067
Patcharawadee ThongkumkoonCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, cmu.ac.th.ORCID https://orcid.org/0000-0002-5392-9062
Nonthanan MoonsanDepartment of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, cmu.ac.th.ORCID https://orcid.org/0009-0004-0564-569X
Ratchadaporn KhiaomaiCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, cmu.ac.th.ORCID https://orcid.org/0009-0008-7741-120X
Arnat PasenaCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, cmu.ac.th.ORCID https://orcid.org/0000-0002-3595-8003
Pathacha SuksakitCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, cmu.ac.th.ORCID https://orcid.org/0000-0003-1025-2124
Chulabhorn PruksachatkunDepartment of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, cmu.ac.th.ORCID https://orcid.org/0000-0002-0023-3627
Maliwan TengsujaritkulDepartment of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, cmu.ac.th.ORCID https://orcid.org/0009-0005-9280-9126

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epidermolysis bullosa (EB) is a genetically heterogeneous skin fragility disorder. Some subtypes also involve other organs, including the pulmonary, gastrointestinal, and renal systems. One severe form, junctional epidermolysis bullosa (JEB), is characterized by cleavage within the skin layers. The rarest and most lethal spectrum of this disorder includes pyloric atresia (PA), known as JEB-PA. The number of reported cases in Thailand is limited. Using trio whole exome sequencing, we identified a Thai newborn with lethal JEB-PA caused by novel null compound heterozygous variants in

Indexed as

epidermolysis bullosajunctional epidermolysis bullosapyloric atresiaThaiwhole exome sequencing

Identifiers

PMID41035785
PMCPMC12482511

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 OpenQuestion graph.