Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome)

The LRP2 gene encodes megalin (LRP-2/GP330), a large single-spanning transmembrane glycoprotein that serves as a multiligand endocytotic receptor and mediates the reabsorption of albumin in the proximal renal tubule. LRP2 is implicated in an autosomal recessive disorder characterized by dimorphisms,...

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Detalles Bibliográficos
Autores principales: Mingarelli, Alessia, Pipitone, Giovanni Battista, Torini, Giacomo, Patricelli, Maria Grazia, Totaro, Martina, Colonna, Clara, Carrera, Paola, Raviglione, Federico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10560113/
https://www.ncbi.nlm.nih.gov/pubmed/37810913
http://dx.doi.org/10.1155/2023/6679572

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10560113/
https://www.ncbi.nlm.nih.gov/pubmed/37810913
http://dx.doi.org/10.1155/2023/6679572

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