Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease
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DOI: 10.3390/genes15060799
Abstract: The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was… read more here.
Keywords: molecular genetic; diagnostics autoinflammatory; challenging molecular; blau syndrome ... See more keywords