Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

doi:10.1136/jmg.32.4.316

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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 d...

Topics

Base Sequence
Brain Diseases
Cells, Cultured
Child, Preschool
Corneal Diseases
DNA Mutational Analysis
Fibroblasts
Genes, Neurofibromatosis 1
Humans
Infant
Lipomatosis
Male
Molecular Sequence Data
Mutation
Skin Diseases

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