Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome.

Li Li, Jiaxi Song, Meiling Qin, Shuyu Zhou, Jingfan Liu, Guangying Zheng

Abstract read

In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing 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

1 citing paper in PubMed.

Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome.Human mutation · 2026
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

6 authors.

Li LiEye Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China, zzu.edu.cn.ORCID https://orcid.org/0009-0001-8092-8719

Jiaxi SongEye Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China, zzu.edu.cn.

Meiling QinEye Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China, zzu.edu.cn.

Shuyu ZhouEye Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China, zzu.edu.cn.

Jingfan LiuEye Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China, zzu.edu.cn.

Guangying ZhengEye Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China, zzu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nance-Horan syndrome (NHS) is a rare X-linked genetic disorder characterized by congenital cataracts, dental anomalies, and neurodevelopmental impairments, caused by mutations in the

Indexed as

CataractEast Asian PeopleGenetic Diseases, X-LinkedMembrane ProteinsMutationTooth AbnormalitiesFemaleGenetic Predisposition to DiseaseHumansMaleMitochondriaPedigreeMembrane ProteinsNHS protein, humancongenital cataractextracellular matrix disruptiongene mutationmitochondrial dysfunctionNance–Horan syndrome

Identifiers

PMID42253502

DOI10.1155/humu/3739907

PMCPMC13240491

What OpenQuestion holds

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Registered trials

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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.