article_metadata: Laura Mauring Louise Frances Porter Valerie Pelletier Axelle Riehm Anne-Sophie Leuvrey Aurélie Gouronc Fouzia Studer Corinne Stoetzel Helene Dollfus Jean Muller
article_metadata: 10.3389/fgene.2020.00938
article_metadata: Front Genet
article_metadata: 2020 Aug 21;11:938.
article_metadata: alms1 gene alström syndrome de novo variation high throughput sequencing retinal dystrophy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/32973878/
article_metadata: Case Reports
article_metadata: PMC7472914
article_metadata: 32973878
article_metadata: Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation
article_metadata: 2020