A novel WFS1 variant associated with isolated congenital cataracts

Biallelic variants in the WFS1 gene are associated with Wolfram syndrome. However, recent publications document that heterozygous variants can lead to a variety of phenotypes, such as Wolfram-like syndrome or isolated features of Wolfram syndrome. In this case report, we present a male patient with...

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Detalles Bibliográficos
Autores principales: Krutish, Angela, Elmore, James, Ilse, Werner, Johnston, Janine L., Hittel, Dustin, Kerr, Marina, Khan, Aneal, Rockman-Greenberg, Cheryl, Mhanni, Aizeddin A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111794/
https://www.ncbi.nlm.nih.gov/pubmed/36781206
http://dx.doi.org/10.1101/mcs.a006259

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111794/
https://www.ncbi.nlm.nih.gov/pubmed/36781206
http://dx.doi.org/10.1101/mcs.a006259

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