Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however, early-onset progressive retinal degeneration affe...

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Detalles Bibliográficos
Autores principales: Mauring, Laura, Porter, Louise Frances, Pelletier, Valerie, Riehm, Axelle, Leuvrey, Anne-Sophie, Gouronc, Aurélie, Studer, Fouzia, Stoetzel, Corinne, Dollfus, Helene, Muller, Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7472914/
https://www.ncbi.nlm.nih.gov/pubmed/32973878
http://dx.doi.org/10.3389/fgene.2020.00938

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