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Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review

Aims and Rationale: The inner retina is supplied by three intraretinal capillary plexi whereas the outer retina is supplied by the choroidal circulation: NDP is essential for normal intraretinal vascularisation. Pathogenic variants in NDP (Xp11.3) may result in either a severe retinal phenotype asso...

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Detalles Bibliográficos
Autores principales: Wawrzynski, James, Patel, Aara, Badran, Abdul, Dowell, Isaac, Henderson, Robert, Sowden, Jane C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149367/
https://www.ncbi.nlm.nih.gov/pubmed/35651932
http://dx.doi.org/10.3389/fgene.2022.884722