Article
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
BMC neurology - 28 Mar 2022
Atasu Burcu, Acarlı Ayse Nur Ozdag, Bilgic Basar, Baykan Betül, Demir Erol, Ozluk Yasemin, Turkmen Aydin, Hauser Ann-Kathrin, Guven Gamze, Hanagasi Hasmet, Gurvit Hakan, Emre Murat, Gasser Thomas, Lohmann Ebba
Abstract excerpt
BACKGROUND: Biallelic pathogenic variants in the SCARB2 gene have been associated with action myoclonus-renal failure (AMRF) syndrome. Even though SCARB2 associated phenotype has been reported to include typical neurological characteristics, depending on the localization and the feature of the pathogenic variants, clinical course and the presentations have been shown to differ. CASE PRESENTATION: Whole exome...
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