<scp><i>MFRP</i></scp>, <scp><i>PRSS56</i></scp>, and <scp><i>MYRF</i></scp> account for 60.5% of a Chinese cohort with nanophthalmos

MFRP, PRSS56, and MYRF account for the majority of genetic causes of NO. MFRP-related NO patients tend to exhibit a strong predisposition to complications. Null variants in MFRP and PRSS56 may increase susceptibility to clinical complications. This study provides insights into the genetic landscape and clinical characteristics of NO. These findings will lead to a better understanding of the mechanisms underlying nanophthalmos and other diseases associated with eye development.

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Publication Details

Journal
Clinical and Experimental Ophthalmology
Published
2024-11-21
DOI
https://doi.org/10.1111/ceo.14465
Citations
3
Primary Topic
Ocular Disorders and Treatments
Type
article
Field-Weighted Citation Impact
1.65

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article

MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos

Ren‐Juan Shen, Zi‐Bing Jin, Jing Tao
3 citations
Clinical and Experimental Ophthalmology
Ocular Disorders and Treatments
1.65
article

MFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos

Ren‐Juan Shen, Zi‐Bing Jin, Jing Tao
article en
3 citations

Abstract

MFRP, PRSS56, and MYRF account for the majority of genetic causes of NO. MFRP-related NO patients tend to exhibit a strong predisposition to complications. Null variants in MFRP and PRSS56 may increase susceptibility to clinical complications. This study provides insights into the genetic landscape and clinical characteristics of NO. These findings will lead to a better understanding of the mechanisms underlying nanophthalmos and other diseases associated with eye development.

Clinical and Experimental OphthalmologyVol. 53(2)
Beijing Tongren Hospital (CN), Capital Medical University (CN)
National Natural Science Foundation of China, Beijing Municipal Natural Science Foundation, Beijing Nova Program, National Key Research and Development Program of China
Openalex Percentile: Top 14%
Ocular Disorders and Treatments
1.65
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