Camacho Salas, Ana Ceballos Rodríguez, Rosa María Llamas Velasco, Sara Murcia García, Francisco José Simón de las Heras, Rogelio
Síndrome de deleción de genes contiguos TSC2/PKD1, [artículo] - Anales de pediatría (Barcelona, Spain: 2003), 2013 - 79(1):42-5.
Formato Vancouver:
Llamas Velasco S, Camacho Salas A, Vidales Moreno C, Ceballos Rodríguez RM, Murcia García FJ, Simón de la Heras R. Síndrome de deleción de genes contiguos TSC2/PKD1 [TSC2/PKD1 contiguous gene deletion syndrome]. An Pediatr (Barc). 2013 Jul;79(1):42-5.
PMID: 23402778
Contiene 13 referencias
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.
Síndrome de deleción de genes contiguos TSC2/PKD1, [artículo] - Anales de pediatría (Barcelona, Spain: 2003), 2013 - 79(1):42-5.
Formato Vancouver:
Llamas Velasco S, Camacho Salas A, Vidales Moreno C, Ceballos Rodríguez RM, Murcia García FJ, Simón de la Heras R. Síndrome de deleción de genes contiguos TSC2/PKD1 [TSC2/PKD1 contiguous gene deletion syndrome]. An Pediatr (Barc). 2013 Jul;79(1):42-5.
PMID: 23402778
Contiene 13 referencias
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.
