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Title: Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome
Authors: Stanescu, B ×
Michiels, J
Proesmans, Willem
Van Damme, Boudewijn #
Issue Date: Jan-1976
Series Title: Birth defects original article series vol:12 issue:3 pages:463-74
Abstract: Electroretinographic and electroencephalographic studies were conducted in a 12-year-old boy with nephronophthisis, chronic hepatic fibrosis, mental retardation and tapetoretinal degeneration (Senior-Boichis syndrome). Markedly reduced ERG amplitudes and flat oscillatory potentials were found in the proband. Delayed scotopic implicit time and reduced amplitudes of the beta-wave were found in the mother's ERG. ERG may identify the carrier state of the Senior-Boichio syndrome.
ISSN: 0547-6844
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Cell & Tissue Research
× corresponding author
# (joint) last author

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