Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation

A Norrie disease protein gene (NDP) variant, c.174 + 1G > A, was found in a Chinese family through next-generation sequencing and verified with Sanger sequencing. A case of Norrie disease was reported in the first child, and the symptoms were consistent with the results of gene sequencing. The ch...

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Detalles Bibliográficos
Autores principales: Li, Haijun, Li, Zhiming, Wang, Degang, Chen, Chuanming, Chen, Zhiqiang, Wang, Jinhua, Xu, Chenxia, Dong, Xingsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9412000/
https://www.ncbi.nlm.nih.gov/pubmed/36035112
http://dx.doi.org/10.3389/fgene.2022.870232

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9412000/
https://www.ncbi.nlm.nih.gov/pubmed/36035112
http://dx.doi.org/10.3389/fgene.2022.870232

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