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Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
Wang, Qiwei; Lin, Xiaoshan; Lai, Kunbei; Liu, Yinghui; Qin, Tingfeng; Tan, Haowen; Li, Jing; Lin, Zhuoling; Zhang, Xulin; Li, Xiaoyan; Lin, Haotian; Chen, Weirong.
Afiliación
  • Wang Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China.
  • Lin X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China.
  • Lai K; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China.
  • Liu Y; Department of Dermatology, Dermatology Hospital, Southern Medical University, 510091, Guangzhou, Guangdong Province, China.
  • Qin T; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China.
  • Tan H; Aegicare Biotech, 518000, Shenzhen, Guangdong Province, China.
  • Li J; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China.
  • Lin Z; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China.
  • Zhang X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China.
  • Li X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China.
  • Lin H; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China. haot.lin@hotmail.com.
  • Chen W; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Sun Yat-sen University, 510060, Guangzhou, Guangdong Province, China. chenwrq@aliyun.com.
BMC Med Genomics ; 16(1): 241, 2023 10 12.
Article en En | MEDLINE | ID: mdl-37828500
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Pueblos del Este de Asia Límite: Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Pueblos del Este de Asia Límite: Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: China