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Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

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 desc...

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Main Authors: Legius, E, Wu, R, Eyssen, M, Marynen, P, Fryns, J P, Cassiman, J J
格式: Artigo
語言:Inglês
出版: 1995
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050386/
https://ncbi.nlm.nih.gov/pubmed/7643367
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