Wird geladen...

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies (IRD) and the most frequent cause of inherited blindness in children. The phenotypic overlap with other early-onset and severe IRDs as well as difficulties associated with the ophthalmic examin...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:PLoS One
Hauptverfasser: Weisschuh, Nicole, Feldhaus, Britta, Khan, Muhammad Imran, Cremers, Frans P. M., Kohl, Susanne, Wissinger, Bernd, Zobor, Ditta
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2018
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6303042/
https://ncbi.nlm.nih.gov/pubmed/30576320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0205380
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!