Article

GLRX5-associated [Fe-S] Cluster Biogenesis Disorder: Further Characterisation of the Neurological Phenotype and Long-term Outcome.

2021-06-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>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 cause two distinct phenotypes: isolated sideroblastic anemia and a neurologi...

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Literature Corpus work: 778426e0-0d85-5baf-b1d7-b6065a602299
DOI: 10.21203/rs.3.rs-614803/v1

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