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Mauring, Laura, Porter, Louise Frances ORCID: 0000-0002-7406-0319, Pelletier, Valerie, Riehm, Axelle, Leuvrey, Anne-Sophie, Gouronc, Aurélie, Studer, Fouzia, Stoetzel, Corinne, Dollfus, Helene and Muller, Jean
(2020)
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.
Frontiers in Genetics, 11.
938-.