Evidence map›Paper›PMID 40321225›Full record

ArticleClinical case reports2025

The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature.

Annie Pappas, Mary Mooney, Katherine Kohnen, Joshua W Owens, Wenying Zhang, Robert J Hopkin, Amelle Shillington

Abstract read
In one paragraph

Article in Clinical case reports, 2025. 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
–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

1 citing paper in PubMed.

  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

7 authors.

Annie PappasDepartment of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA.
Mary MooneyDepartment of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA.
Katherine KohnenDepartment of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA.
Joshua W OwensDivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA.
Wenying ZhangDivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA.
Robert J HopkinDivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA.
Amelle ShillingtonDivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA.ORCID https://orcid.org/0000-0002-7447-8117

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present a 17-year-old female with a childhood clinical diagnosis of Cornelia de Lange Syndrome (CdLS), however later genetic testing identified compound heterozygous variants in

Indexed as

Alazami‐Yuan syndromeCornelia de Lange‐like syndromeTAF6transcriptomopathies

Identifiers

PMID40321225
PMCPMC12048704

What OpenQuestion holds

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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.