Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation

PURPOSE: To describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents. METHODS: The patient and his healthy non-consanguineous parents underwent detailed ophthalmic evaluations including electro-oculography (EOG), spectral-domain...

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Dades bibliogràfiques
Publicat a:Doc Ophthalmol
Autors principals: Kubota, Daiki, Gocho, Kiyoko, Akeo, Keiichiro, Kikuchi, Sachiko, Sugahara, Michitaka, Matsumoto, Celso Soiti, Shinoda, Kei, Mizota, Atsushi, Yamaki, Kunihiko, Takahashi, Hiroshi, Kameya, Shuhei
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2016
Matèries:
Clinical Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4880638/
https://ncbi.nlm.nih.gov/pubmed/27071392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10633-016-9540-3
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