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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7048679/
https://ncbi.nlm.nih.gov/pubmed/31769495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgz216
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados