Lymphangioleiomyomatosis (LAM) is a slowly progressive, low-grade, metastasising
neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal …

Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …

The NCCN Guidelines for Kidney Cancer provide multidisciplinary recommendations for
diagnostic workup, staging, and treatment of patients with renal cell carcinoma (RCC) …

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …

Background Tuberous sclerosis complex is highly variable in clinical presentation and
findings. Disease manifestations continue to develop over the lifetime of an affected …

Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …

Background: Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that primarily
affects women. The purpose of these guidelines is to provide recommendations for the …

The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …

Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …