Article
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.
Human mutation - 1 Jan 1996
Wu R, Legius E, Robberecht W, Dumoulin M, Cassiman J J, Fryns J P
Abstract excerpt
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...
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