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American Journal of Ophthalmology|August 2, 2008
Ophthalmological aspects of Pierson syndromeCecilie Bredrup, Verena Matejas, Margaret Barrow, et al.Human Mutation|June 18, 2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrumVerena Matejas, Bernward Hinkes, Faisal Alkandari, et al.The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.Nature Genetics|August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, et al.Pageof 2