A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing

PURPOSE: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing. CASE REPORT: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause. The...

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Bibliografische gegevens
Gepubliceerd in:Case Rep Ophthalmol
Hoofdauteurs: Fukiyama, Yurie, Tonari, Masahiro, Matsuo, Junko, Oku, Hidehiro, Sugasawa, Jun, Shimakawa, Shuichi, Ogihara, Tohru, Okamoto, Nobuhiko, Ikeda, Tsunehiko
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: S. Karger AG 2018
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5892312/
https://ncbi.nlm.nih.gov/pubmed/29643790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000485964
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