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