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Title: Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report
Authors: Pourjavan, S ×
Fryns, Jean-Pierre
Van Hove, J L K
Poorthuis, B J H M
Casteels, Ingele #
Issue Date: Feb-2003
Series Title: Bulletin de la Société belge d'ophtalmologie issue:286 pages:19-24
Abstract: Mucolipidosis III (Pseudo-Hurler Polydystrophy) is a rare autosomal recessively inherited Hurler-like disease. The ophthalmological findings in these patients include a triad of mild retinopathy, corneal clouding and hyperopic astigmatism. We present a patient with these ophthalmological characteristics.
ISSN: 0081-0746
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group Ophthalmology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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