Evidence map›Paper›PMID 34916826›Full record

ArticleThe application of clinical genetics2021

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam.

Sang Trieutien, Tam Vu Van, My Tran Ngoc Thao, Son Trinh The, Khoa Tran Van, Tung Nguyen Thanh, Tuan Tran Van, Hanh Nguyen Thi

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The application of clinical genetics, 2021. 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
0.1field-weighted citation impact, top 56% of its field
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, 3 citations in OpenAlex.

  1. Article
  2. The Saudi National Policy and Protocol for Epidermolysis Bullosa.Risk management and healthcare policy · 2025
    Article
  3. 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

8 authors at 4 institutions in 2 countries.

Sang Trieutien *Department of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam.ORCID 0000-0001-6835-0718
Tam Vu Van *Director Office, Hai Phong Hospital of Obstetrics and Gynecology, Haiphong, 40000, Vietnam.
My Tran Ngoc ThaoDépartement de formation Biologie moléculaire et cellulaire, Sorbonne University, Paris, 75006, France.ORCID 0000-0001-5237-4723
Son Trinh TheMilitary Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam.
Khoa Tran VanDepartment of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam.
Tung Nguyen ThanhMilitary Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam.
Tuan Tran VanMilitary Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam.
Hanh Nguyen ThiFaculty of Biology, VNU University of Science, Vietnam National University, Hanoi, 12108, Vietnam.
Vietnam Military Medical University · VNHai Phong University · VNSorbonne Université · FRVietnam National University, Hanoi · VN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundEpidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to severe, classified into four major types: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB) and Kindler syndrome. Preimplantation genetic diagnosis for the disease remains the only available option for families at risk for the recurrence of the disorder without having to terminate an ongoing pregnancy. MATERIALS AND

methodsA novel

resultsThe established protocol for EB detected mutant allele in 6/9 embryos (66.6%), while the remaining 3 embryos (33.4%) appeared to not carry any mutation. Only one among 3 embryos was recommended to be transferred into the mother's uterus.

conclusionThe established preimplantation genetic diagnosis procedure is helpful to families affected by epidermolysis bullosa caused by

Indexed as

COL7A1 gene mutationEBepidermolysis bullosaPGDpreimplantation genetic diagnosisrare dystrophic epidermolysis bullosaRDEBskin disorder

Identifiers

PMID34916826
PMCPMC8668251
OpenAlexW4200608322

What OpenQuestion 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 OpenQuestion graph.