Evidence map›Paper›PMID 33967092›Full record

ReviewZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences2021

Cardio

Baiyu Chen, Shimeng Chen, Juan Xiong, Fei Yin

Open access · greenAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2021. 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
0.1field-weighted citation impact, top 57% 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, 1 citations in OpenAlex.

  1. [Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025
    Review
  2. 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

4 authors at 1 institution in 1 country.

Baiyu ChenDepartment of Pediatrics, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China. 1814304015@qq.com.
Shimeng ChenDepartment of Pediatrics, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China.
Juan XiongDepartment of Pediatrics, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China.
Fei YinDepartment of Pediatrics, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China. yf2323@hotmail.com.
Central South University · CN

Funding

the Hunan Key Research and Development Program 2019SK2081the National Key R&D Program 2016YFC1306202the National Natural Science Foundation 81771408
6 · The paper itself

Abstract

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.

Indexed as

Abnormalities, MultipleEctodermal DysplasiaHeart Defects, CongenitalChildFaciesFailure to ThriveHumansMutationProto-Oncogene Proteins B-rafBRAF protein, humanProto-Oncogene Proteins B-rafBRAF genecardio-facio-cutaneous syndromemutation

Identifiers

PMID33967092
PMCPMC10930301
OpenAlexW3162170979

What OpenQuestion holds

Textmetadata
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.