Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients
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DOI: 10.3389/fgene.2022.808919
Abstract: Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals. Olfactory function was evaluated… read more here.
Keywords: expansion alstr; alstr syndrome; alms patients; syndrome chinese ... See more keywords