Evidence map›Paper›PMID 38058757›Full record

ArticleMolecular syndromology2023

Sequence Variants in the

Muhammad Bilal, Tobias B Haack, Rebecca Buchert, Susana Peralta, Imtiaz Ahmad, Faisal, Sanaullah Abbasi, Wasim Ahmad

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

Article in Molecular syndromology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.3field-weighted citation impact, top 19% 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

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Article
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.

Muhammad BilalDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Tobias B HaackInstitute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Rebecca BuchertInstitute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Susana PeraltaInstitute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Imtiaz AhmadDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
FaisalDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Sanaullah AbbasiDepartment of Biochemistry, Shah Abdul Latif, Khairpur, Pakistan.
Wasim AhmadDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Quaid-i-Azam University · PKUniversity of Tübingen · DEAga Khan University · PKShah Abdul Latif University · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Split hand and foot malformation (SHFM) or ectrodactyly is a rare limb deformity characterized by median cleft of the hand and foot with impaired or missing central rays. It can occur as an isolated anomaly or in association with abnormalities of other body parts. Methods: After delineating the clinical features of two families (A-B), with non-syndromic SHFM, exome and Sanger sequencing were employed to search for the disease-causing variants. Results: Analysis of exome and Sanger sequencing data revealed two causative variants in the Conclusion: Our findings add a novel variant in

Indexed as

Limb anomalySequence variantsSplit hand and foot malformationWNT10B

Identifiers

PMID38058757
PMCPMC10697732
OpenAlexW4389401831

What OpenQuestion holds

Textmetadata
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.