Evidence map›Paper›PMID 38721582›Full record

ArticleJournal of pediatric genetics2024

A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

Ozkan Ilhan, Evren Gumus, Nilay Hakan, Hande Istar, Bugra Harmandar, Hasim Olgun, Suleyman Cuneyt Karakus, Nesat Cullu, Juergen Kohlhase, James D Sutherland and 1 more

Abstract read
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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

11 authors.

Ozkan IlhanDepartment of Pediatrics, Division of Neonatology, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Evren GumusDepartment of Medical Genetics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Nilay HakanDepartment of Pediatrics, Division of Neonatology, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Hande IstarDepartment of Cardiovascular Surgery, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Bugra HarmandarDepartment of Cardiovascular Surgery, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Hasim OlgunDivision of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Suleyman Cuneyt KarakusDepartment of Pediatric Surgery, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Nesat CulluDepartment of Radiology, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Juergen KohlhaseCenter for Human Genetics, SYNLAB MVZ Humangenetik Freiburg GmbH, Freiburg, Germany.
James D SutherlandCIC bioGUNE, Bizkaia Technology Park, Derio, Spain.
Rosa BarrioCIC bioGUNE, Bizkaia Technology Park, Derio, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the

Indexed as

absent pulmonary valve syndromepreaxial polydactylySALL1 geneTownes–Brocks syndrometriphalangeal thumb

Identifiers

PMID38721582
PMCPMC11076095

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.