Evidence map›Paper›PMID 34828665›Full record

ArticleChildren (Basel, Switzerland)2021

Wiedemann-Steiner Syndrome with a Pathogenic Variant in

Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

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

Article in Children (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 32% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Article
  3. 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

8 authors at 5 institutions in 1 country.

Chung-Lin LeeDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Chih-Kuang ChuangDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan.ORCID 0000-0001-9776-2092
Huei-Ching ChiuDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Ru-Yi TuDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan.
Yun-Ting LoDepartment of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Ya-Hui ChangDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Hsiang-Yu LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.ORCID 0000-0002-9619-0990
Shuan-Pei LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Mackay Memorial Hospital · TWChina Medical University · TWFu Jen Catholic University · TWNational Taipei University of Nursing and Health Science · TWNational Yang Ming Chiao Tung University · TW

Funding

Mackay Memorial Hospital MMH-E-110-16, MMH-E-109-16, MMH-E-108-16, MMH-MM-10801, and MMH-107-82Ministry of Science and Technology, Taiwan MOST-110-2314-B-195-010-MY3, MOST-110-2314-B-195-014, MOST-110-2314-B-195-029, MOST-109-2314-B-195-024, MOST-108-2314-B-195-012, and MOST-108-2314-B-195-014
6 · The paper itself

Abstract

Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder. Patients with WSS have characteristics of growth retardation, facial dysmorphism, hypertrichosis cubiti (HC), and neurodevelopmental delays. WSS is in an autosomal dominant inherited pattern caused by a mutation of the

Indexed as

KMT2ATaiwanwhole-exome sequencingWiedemann–Steiner syndrome

Identifiers

PMID34828665
PMCPMC8620998
OpenAlexW3208344545

What OpenQuestion holds

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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.