Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

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 patho...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962058/
https://www.ncbi.nlm.nih.gov/pubmed/35346091
http://dx.doi.org/10.1186/s12883-022-02628-y

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