Novel neonatal presentation of megalencephaly‐polymicrogyria‐pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case
Author:
Affiliation:
1. Division of Dermatology University of Vermont Medical Center Burlington VT USA
2. Departments of Pathology & Laboratory Medicine and Pediatrics University of Vermont Health Network Burlington VT USA
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14480
Reference5 articles.
1. A Diverse Array of Cancer-Associated MTOR Mutations Are Hyperactivating and Can Predict Rapamycin Sensitivity
2. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature
3. Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: PIK3CA , PIK3R2 , AKT3 , and MTOR
4. Mosaic Neurocutaneous Disorders and Their Causes
5. U.S. National Library of Medicine.Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation. (Clinicaltrials.gov Identifier NCT02428296).2020.https://www.clinicaltrials.gov/ct2/show/results/NCT02428296&draw=2&rank=1&view=resultsAccessed June 24 2020
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