Article
Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
Journal of medical genetics - 1 Apr 1995
Legius E, Wu R, Eyssen M, Marynen P, Fryns J P, Cassiman J J
Abstract excerpt
Encephalocraniocutaneous lipomatosis (ECCL) is a congenital hamartomatous disorder characterised by unilateral skin lesions, lipomas, and ipsilateral ophthamological and cerebral malformations. The disorder is thought to represent a localised form of Proteus syndrome. In this report, a child is described with ECCL and a de novo nonsense mutation in exon 29 (S1745X) of the neurofibromatosis type 1 (NF1) gene....
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