1.
J Eur Acad Dermatol Venereol
; 32(6): e243-e245, 2018 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29265517
Assuntos
Astrocitoma/complicações , Neoplasias Encefálicas/complicações , Proteína 2 do Complexo Esclerose Tuberosa/genética , Esclerose Tuberosa/genética , Adolescente , Criança , Humanos , Masculino , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Deleção de Sequência , Esclerose Tuberosa/complicações
2.
An Pediatr (Barc)
; 79(1): 42-5, 2013 Jul.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-23402778
RESUMO
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.