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

Clinical genetics - 1 Jun 2023

Zhozhikov Leonid, Sukhomyasova Aitalina, Gurinova Elizaveta, Nogovicina Anna, Vasilev Filipp, Maksimova Nadezhda

Abstract excerpt

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 of Yakut SOPH patients' clinical data with SOPH-like conditions reported in the world scientific literature to form a foundation for NBAS pathogenesis discussion. Clinical data from the...

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PMID: 36843433
DOI: 10.1111/cge.14319

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