Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia.

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Bibliographic Details
Title: Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia.
Authors: Luo J; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China.; Department of Ophthalmology, The Third Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510630, China., Li K; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China., Yang R; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China., Tang M; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China., Ge J; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China. gejian@mail.sysu.edu.cn.
Source: BMC medical genomics [BMC Med Genomics] 2026 Apr 21; Vol. 19 (1). Date of Electronic Publication: 2026 Apr 21.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1755-8794
DOI:10.1186/s12920-026-02376-9