Evidence map›Paper›PMID 39086452›Full record

ArticleJournal of pediatric genetics2024

Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in

Aaisha Al Balushi, Mariya Al Hinai, Alya Al Hosni, Fatima Al Amrani, Ashwaq Al Maimani, Nabil Al Maki, Nadia Al Hashmi

Abstract read
In one paragraph

Article in Journal of pediatric genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

7 authors.

Aaisha Al BalushiDivision of Clinical and Biochemical Genetics, Child Health Department, Royal Hospital, Muscat, Oman.ORCID 0000-0002-6319-1620
Mariya Al HinaiNational Genetic Center, Royal Hospital, Muscat, Oman.
Alya Al HosniNational Genetic Center, Royal Hospital, Muscat, Oman.
Fatima Al AmraniDivision of Pediatric Neurology, Sultan Qaboos University Hospital, Seeb, Oman.
Ashwaq Al MaimaniNational Genetic Center, Royal Hospital, Muscat, Oman.
Nabil Al MakiDivision of Pediatric Neurology, Child Health Department, Royal Hospital, Muscat, Oman.
Nadia Al HashmiDivision of Clinical and Biochemical Genetics, Child Health Department, Royal Hospital, Muscat, Oman.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the

Indexed as

demyelinatingdistal arthrogryposis DA-5hypotoniaPIEZO-2-related disorders

Identifiers

PMID39086452
PMCPMC11288716

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.