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

Background Tuberous sclerosis complex is a genetic disorder affecting every organ system,
but disease manifestations vary significantly among affected individuals. The diverse and …

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

Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This statement …

The purpose of this statement is to provide consensus-based recommendations for optimal
management and care for patients with primary mitochondrial disease. This statement is …

Mitochondrial disease is a heterogeneous group of multisystemic diseases that develop
consequent to mutations in nuclear or mitochondrial DNA. The prevalence of inherited …

Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic
causes of disease improves, periodic reanalysis of clinical exome sequence could yield new …

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules,
confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, …

The first disorder of mitochondrial function was described by Luft in 1959. Over the ensuing
decades, multiple cases of mitochondrial dysfunction were reported, and the term “…

Background Tuberous sclerosis complex is an autosomal dominant disorder predisposing to
the development of benign lesions in different body organs, mainly in the brain, kidney, liver…