Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma

Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) may be misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes during early infancy. In this study, we identified a family with CHED2, which was previously misdiagnosed as having PCG, and followed up...

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Detalles Bibliográficos
Autores principales: Yousaf, Khazeema, Naz, Sadaf, Mushtaq, Asma, Wohler, Elizabeth, Sobreira, Nara, Ho, Bo-Man, Chen, Li-Jia, Chu, Wai-Kit, Bashir, Rasheeda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956413/
https://www.ncbi.nlm.nih.gov/pubmed/36833236
http://dx.doi.org/10.3390/genes14020310

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