Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family

BACKGROUND: A five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD). METHODS: WES was performed for unaffected and affected individuals within the fam...

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Detalles Bibliográficos
Autores principales: Berry, Vanita, Ionides, Alexander, Georgiou, Michalis, Quinlan, Roy A, Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351282/
https://www.ncbi.nlm.nih.gov/pubmed/37493686
http://dx.doi.org/10.1136/bmjophth-2023-001252

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351282/
https://www.ncbi.nlm.nih.gov/pubmed/37493686
http://dx.doi.org/10.1136/bmjophth-2023-001252

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