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• W1996601103 abstract "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. Although it is possible that both ECCL and NF1 occur coincidentally in this patient, we favour the hypothesis that in exceptional cases a mutation in the NF1 gene might give rise to severe congenital malformations such as ECCL. Possible pathogenetic mechanisms for these malformations are discussed." @default.
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• W1996601103 date "1995-04-01" @default.
• W1996601103 modified "2023-10-17" @default.
• W1996601103 title "Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene." @default.
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• W1996601103 doi "https://doi.org/10.1136/jmg.32.4.316" @default.
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