Evidence map›Paper›PMID 39202303›Full record

ArticleDiagnostics (Basel, Switzerland)2024

Genetic and Phenotypic Spectrum of

Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

Abstract read
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

10 authors.

Chung-Lin LeeDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.ORCID 0000-0001-8178-6938
Chih-Kuang ChuangDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.ORCID 0000-0001-9776-2092
Ming-Ren ChenDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.ORCID 0000-0003-0708-1002
Ju-Li LinDivision of Endocrine & Medical Genetics, Department of Pediatrics, Chang Gung Children's Medical Center, Chang Gung Memorial Hospital, Taoyuan 33378, Taiwan.
Huei-Ching ChiuDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Ya-Hui ChangDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Yuan-Rong TuDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Yun-Ting LoDepartment of Rare Disease Center, 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.

Funding

Mackay Memorial Hospital MMH-MM-113-13, MMH-E-113-13, MMH-MM-112-14, MMH-E-112-13, and MMH-E-111-13Ministry of Science and Technology NSTC-112-2314-B-195-014-MY3, NSTC-112-2811-B-195-001, NSTC-112-2314-B-195-003, NSTC-111-2314-B-195-017, NSTC-111-2811-B-195-002, NSTC-111-2811-B-195-001, NSTC-110-2314-B-195-014, NSTC-110-2314-B-195-010-MY3, and NSTC-110-2314-B-195-029
6 · The paper itself

Abstract

Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients.

Indexed as

Kabuki syndromeKMT2Dphenotypic heterogeneityTaiwan

Identifiers

PMID39202303
PMCPMC11353766

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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.