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GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome

BACKGROUND: Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in the early steps of Fe-S cluster biogenesis, are rare and...

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Detalles Bibliográficos
Autores principales:	Sankaran, Bindu Parayil, Gupta, Sachin, Tchan, Michel, Devanapalli, Beena, Rahman, Yusof, Procopis, Peter, Bhattacharya, Kaustuv
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8565018/ https://www.ncbi.nlm.nih.gov/pubmed/34732213 http://dx.doi.org/10.1186/s13023-021-02073-z

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