Evidence map›Paper›PMID 29977801›Full record

ArticleInternational journal of ophthalmology2018

Knobloch syndrome caused by homozygous frameshift mutation of the

Lu-Si Zhang, Hai-Bo Li, Jun Zeng, Yan Yang, Chun Ding

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

Article in International journal of ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

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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 3 institutions in 1 country.

Lu-Si ZhangDepartment of Ophthalmology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China.
Hai-Bo LiThe School of Life Sciences, Central South University, Changsha 410078, Hunan Province, China.
Jun ZengDepartment of Ophthalmology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China.
Yan YangDepartment of Ophthalmology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China.
Chun DingDepartment of Ophthalmology, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China.
Central South University · CNHunan Provincial Center for Disease Control and Prevention · CNSecond Xiangya Hospital of Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family.

methodsOcular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the two patients. Sanger sequencing was utilized to validate the presence of variation in the family as well as in 100 normal controls. Real-time quantitative polymerase chain reaction (PCR) was used to detect the expression level of

resultsThe affected subjects presented with vision loss, exotropia, cataracts, retinal detachment, and other complications. A homozygous c.4759_4760delCT (p.Leu1587ValfsX72) mutation (rs398122391) in

conclusionThe findings strongly indicate that this mutation is the disease-causing mutation. Moreover, this is the first Knobloch syndrome pedigree reported in the Chinese population.

Indexed as

COL18A1Knobloch syndromewhole exome sequencing

Identifiers

PMID29977801
PMCPMC6010381
OpenAlexW2898668726

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.