Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism

CONTEXT: Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndrome). CASE DESCRIPTION: This report describes a 12-yea...

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Detalles Bibliográficos
Autores principales: Tahoun, Mona, Chandler, Jennifer C, Ashton, Emma, Haston, Scott, Hannan, Athia, Kim, Ji Soo, D’Arco, Felipe, Bockenhauer, D, Anderson, G, Lin, Meei-Hua, Marzouk, Salah, Saied, Marwa H, Miner, Jeffrey H, Dattani, Mehul T, Waters, Aoife M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048679/
https://www.ncbi.nlm.nih.gov/pubmed/31769495
http://dx.doi.org/10.1210/clinem/dgz216

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