Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French coh...

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Detalles Bibliográficos
Autores principales: Poncet, Anaïs F., Grunewald, Olivier, Vaclavik, Veronika, Meunier, Isabelle, Drumare, Isabelle, Pelletier, Valérie, Bocquet, Béatrice, Todorova, Margarita G., Le Moing, Anne-Gaëlle, Devos, Aurore, Schorderet, Daniel F., Jobic, Florence, Defoort-Dhellemmes, Sabine, Dollfus, Hélène, Smirnov, Vasily M., Dhaenens, Claire-Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032189/
https://www.ncbi.nlm.nih.gov/pubmed/35457110
http://dx.doi.org/10.3390/ijms23084294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032189/
https://www.ncbi.nlm.nih.gov/pubmed/35457110
http://dx.doi.org/10.3390/ijms23084294

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