Articles with "soph syndrome" as a keyword



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Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype

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Published in 2023 at "Clinical Genetics"

DOI: 10.1111/cge.14319

Abstract: Since the first report of SOPH syndrome among the Yakut population in 2010, new clinical data of SOPH‐like conditions continue to appear. We expand the phenotypic spectrum of SOPH syndrome and perform a comparative analysis… read more here.

Keywords: origins soph; soph syndrome; yakut; soph like ... See more keywords