The importance of genetic testing as demonstrated by two cases of <i>CACNA1F</i>-associated retinal generation misdiagnosed as LCA.
Clara J. Men(Howard Hughes Medical Institute), Eric A. Pierce(Broad Institute), Jason Comander(Massachusetts Eye and Ear Infirmary), Bart P. Leroy(Ghent University Hospital), Emma Bedoukian(Vienna Biocenter), Xiaosong Zhu(Linyi People's Hospital), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary), Emily Place(MACOM (United States)), Anne B. Fulton(Boston Children's Hospital)
PubMed
January 1, 2017
Cited by 31
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