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Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation
Mauring, Laura, Porter, Louise Frances, Pelletier, Valerie, Riehm, Axelle, Leuvrey, Anne-Sophie, Gouronc, Aurélie, Studer, Fouzia, Stoetzel, Corinne, Dollfus, Helene, Muller, JeanVolume:
11
Journal:
Frontiers in Genetics
DOI:
10.3389/fgene.2020.00938
Date:
August, 2020
File:
PDF, 1.66 MB
2020