We have located links that may give you full text access.
Case Reports
Journal Article
Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
Journal of Medical Genetics 1995 April
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.
Full text links
Related Resources
Trending Papers
Challenges in Septic Shock: From New Hemodynamics to Blood Purification Therapies.Journal of Personalized Medicine 2024 Februrary 4
Molecular Targets of Novel Therapeutics for Diabetic Kidney Disease: A New Era of Nephroprotection.International Journal of Molecular Sciences 2024 April 4
Perioperative echocardiographic strain analysis: what anesthesiologists should know.Canadian Journal of Anaesthesia 2024 April 11
The 'Ten Commandments' for the 2023 European Society of Cardiology guidelines for the management of endocarditis.European Heart Journal 2024 April 18
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app