Zobrazeno 1 - 2
of 2
pro vyhledávání: '"António Augusto Magalhães"'
Publikováno v:
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11 which disrupt EG5 protein function, impacting the development and maintenance of r
Externí odkaz:
https://doaj.org/article/e9c9f5dbb8bb4065b273fd2d4f7ecf6f
Autor:
Jorge Ribeiro Breda, Francisco Miguel Cruz, Fern, António Augusto Magalhães, Elisete Br, o Falcao Reis, Susana Penas
Publikováno v:
Journal of Clinical & Experimental Ophthalmology.
Introduction: Hunter syndrome or mucopolysaccharidosis type II is a rare progressive multi-systemic disorder, caused by an abnormal storage of glycosaminoglycans (GAGs) in almost every cell type, including most ocular tissues [1,2]. Patients have a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef925349d58e94b0fd933782ddda31a0
https://doi.org/10.4172/2155-9570.1000577
https://doi.org/10.4172/2155-9570.1000577