Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
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DOI: 10.1038/s41436-019-0623-x
Abstract: Purpose Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency… read more here.
Keywords: registry study; 177 individuals; kabuki syndrome; manifestations kabuki ... See more keywords
The Shwachman-Diamond Syndrome Registry: Hematologic Complications
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DOI: 10.1182/blood-2018-99-117582
Abstract: The Shwachman-Diamond Syndrome Registry (SDSR) was established in December 2008 with the goal of understanding the natural history and biology of SDS to improve the lives of people with SDS. The SDSR has enrolled 220… read more here.
Keywords: shwachman diamond; age; diamond syndrome; marrow ... See more keywords
Comorbidities in the UK Primary Sjögren’s Syndrome Registry
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DOI: 10.3389/fimmu.2022.864448
Abstract: Introduction Primary Sjögren’s Syndrome (PSS) is a c0hronic disease characterised by symptoms of oral and ocular dryness, pain, fatigue, anxiety and depression. PSS patients can be subclassified by the pattern of severity of these five… read more here.
Keywords: gren syndrome; syndrome registry; primary gren; polypharmacy scores ... See more keywords