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Title: Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome
Authors: Wu, Rina ×
Legius, Eric
Robberecht, Wim
Cassiman, Jean-Jacques
Fryns, Jean-Pierre #
Issue Date: Nov-1996
Series Title: Human Mutation vol:8 issue:1 pages:51-6
Abstract: Multiple lentigines (LEOPARD) syndrome has been delineated as an autosomal dominant disorder with lentigines, cardiac abnormalities, variable mental retardation, and typical craniofacial features as the most characteristic findings. LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1). In this report we describe a de novo missense mutation (M 1035R) in exon 18 of the NF1 gene in a young woman with a prior diagnosis of LEOPARD syndrome. We hypothesize that some patients now diagnosed with LEOPARD syndrome have in fact a mutation in the NF1 gene, whereas in other patients with LEOPARD syndrome, a different gene might be involved.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group Experimental Neurology
Human Mutations and Polymorphisms Section (-)
Laboratory for Neurobiology (Vesalius Research Center)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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