Evidence map›Paper›PMID 37706616›Full record

ArticleAmerican journal of medical genetics. Part A2024

Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.

S Deepak Amalnath, Jothivanan, Junko Oshima, Jillian G Buchan, Sarah Paolucci

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 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
0.5field-weighted citation impact, top 33% of its field
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, 3 citations in OpenAlex.

  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

5 authors at 2 institutions in 2 countries.

S Deepak AmalnathDepartment of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), India.ORCID 0000-0002-3286-0107
JothivananDepartment of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), India.
Junko OshimaDepartment of Laboratory Medicine & Pathology, University of Washington, Seattle, Washington, USA.
Jillian G BuchanDepartment of Laboratory Medicine & Pathology, University of Washington, Seattle, Washington, USA.
Sarah PaolucciDepartment of Laboratory Medicine & Pathology, University of Washington, Seattle, Washington, USA.
University of Washington · USJawaharlal Institute of Post Graduate Medical Education and Research · IN

Funding

International Registry of Werner SyndromeR01CA210916 · NCI · UNIVERSITY OF WASHINGTON · PI JUNKO OSHIMA · 2016 to 2026
$3.8M
NCI NIH HHS R01 CA210916
6 · The paper itself

Abstract

Woodhouse-Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 gene. Most of the patients have been reported from Greater Middle Eastern countries. We report a 38 male from southern India who presented with syncope and massive hemoptysis due to ruptured bronchopulmonary collaterals. He also had alopecia, cataracts, recently diagnosed diabetes and hypogonadism. Whole exome sequencing showed a novel homozygous truncating variant in the DCAF17 gene. Despite embolization of the aortopulmonary collaterals, the patient died of recurrent hemoptysis.

Indexed as

Diabetes MellitusHypogonadismIntellectual DisabilityAlopeciaArrhythmias, CardiacBasal Ganglia DiseasesHemoptysisHumansMaleNuclear ProteinsUbiquitin-Protein Ligase ComplexesDCAF17 protein, humanNuclear ProteinsUbiquitin-Protein Ligase ComplexescardiacIndianWoodhouse-Sakati syndrome

Identifiers

PMID37706616
PMCPMC10842022
OpenAlexW4386726203

What OpenQuestion holds

Textmetadata
LicenceTDM
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.