Evidence map›Paper›PMID 41907767›Full record

ArticleCardiology and cardiovascular medicine2026

Novel Missense Variants in

Gloria K E Zodanu, Angela C Zeigler, Jordan Mudery, Charlotte Wolf, John H Hwang, Xuedong Kang, Amy Speirs, Lee-Kai Wang, Reshma Biniwale, Ming-Sing Si and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cardiology and cardiovascular medicine, 2026. 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. Mulibrey Nanism: Clinical Spectrum and Molecular Pathogenesis.International journal of molecular sciences · 2026
    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

17 authors.

Gloria K E ZodanuNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Angela C ZeiglerNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Jordan MuderyNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Charlotte WolfNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
John H HwangNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Xuedong KangNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Amy SpeirsNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Lee-Kai WangDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Reshma BiniwaleDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Ming-Sing SiDepartment of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Nancy HalnonDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Gary M SatouDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
UCLA Congenital Heart Defects BioCore Faculty
Wayne W GrodyDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Glen S Van ArsdellDepartment of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Stanly F NelsonDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Marlin ToumaNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

Funding

Novel Gene-Environment Regulatory Circuit in Chamber-Specific Growth of Perinatal HeartR01HL153853 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI TOUMA, MARLIN · 2020 to 2023
$1.6M
NHLBI NIH HHS R01 HL153853
6 · The paper itself

Abstract

Background: Mulibrey nanism is a rare autosomal recessive genetic disorder caused by homozygous or compound heterozygous mutations in the tripartite motif protein 37 ( Methods and Results: We performed phenotypic-genotypic analyses in a 32-week gestation preterm infant presenting with a complex congenital heart disease, including interrupted aortic arch type B, persistent left-sided superior vena cava (SVC), septal defects, and valvular disease, in addition to other congenital malformations. Initial genetic screenings, including whole genome chromosomal microarray, were negative. Whole exome sequencing (WES) of DNA samples from the proband/mother duo revealed two novel heterozygous missense variants [c.199C>T (p.Arg67Cys)] and [c.2041C>G (p.Gln681Glu)] in the Conclusion: These findings highlight the critical role of the

Indexed as

Genetic variantsMulibrey nanismTRIM37Whole Exome Sequencing (WES)

Identifiers

PMID41907767
PMCPMC13026078

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.