Evidence map›Paper›PMID 40662096›Full record

ArticleCase reports in genetics2025

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications.

Ariel Tarrell, Jessika Weber, Reem Shawar, Luca Brunelli, Susan Morelli, Pinar Bayrak-Toydemir, Elizabeth Doughty, Gulsen Akay, Lorenzo D Botto, Emily Flemming and 2 more

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Article in Case reports in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Ariel TarrellDepartment of Pediatrics, Division of Neonatology, Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID https://orcid.org/0000-0002-5812-3332
Jessika WeberDepartment of Pediatrics, Division of Pediatric Endocrinology, Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Reem ShawarDepartment of Pediatrics, Division of Pediatric Endocrinology, Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Luca BrunelliDepartment of Pediatrics, Division of Neonatology, Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID https://orcid.org/0000-0002-9542-2243
Susan MorelliIntermountain Health, Salt Lake City, Utah, USA.
Pinar Bayrak-ToydemirDepartment of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID https://orcid.org/0000-0001-9381-2478
Elizabeth DoughtyDepartment of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Gulsen AkayDepartment of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Lorenzo D BottoDepartment of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Emily FlemmingDepartment of Pediatrics, Division of Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
N Scott ReadingDepartment of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Catalina JaramilloDepartment of Pediatrics, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID https://orcid.org/0000-0003-0437-6569

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neonatal liver disease is a broad entity. When it presents in conjunction with other abnormalities, it raises the question of a potential underlying genetic cause. Etiologies that were once difficult to diagnose are becoming more readily identifiable with the arrival of next-generation sequencing. We present a rare cause of neonatal liver disease, a FOCAD gene variant, that was determined to be the most likely cause of an infant's liver disease and other findings. This case adds to only a few reports in the literature on this presentation in the neonatal period.

Identifiers

PMID40662096
PMCPMC12256164

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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.