A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report

Aceruloplasminemia is a rare autosomal recessive inherited disorder. Mutations in the ceruloplasmin gene cause depressed ferroxidase activity leading to iron accumulation. The clinical phenotype is highly variable: anemia, retinopathy, diabetes mellitus, psychiatric disorders, and neurological sympt...

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Detalles Bibliográficos
Autores principales: Lobbes, Hervé, Reynaud, Quitterie, Mainbourg, Sabine, Savy-Stortz, Claire, Ropert, Martine, Bardou-Jacquet, Edouard, Durupt, Stéphane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108494/
https://www.ncbi.nlm.nih.gov/pubmed/35585918
http://dx.doi.org/10.3389/fnins.2022.906360

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108494/
https://www.ncbi.nlm.nih.gov/pubmed/35585918
http://dx.doi.org/10.3389/fnins.2022.906360

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