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

Internet

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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