Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family

ABSTRACT Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the formation of hamartomas in the brain, kidney, and heart, along with other complex clinical manifestations, including TSC‐associated neuropsychiatric disorder (TAND). Development of gen...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Elena Tuller, Joshua A. Samuels, Hope Northrup, Kate Richardson
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2026-03-01
Colecção:	Molecular Genetics & Genomic Medicine
Assuntos:	angiomyolipoma kidney pathogenic variant TSC2 tuberous sclerosis complex
Acesso em linha:	https://doi.org/10.1002/mgg3.70205
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!