000			01470na a2200277 4500
999			_c5563 _d5563
003			PC5563
005			20210225062559.0
008			130622s2013 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aspa
100			_aCamacho Salas, Ana _9748 _eNeurología
100			_92621 _aCeballos Rodríguez, Rosa María _eNeurología
100			_aLlamas Velasco, Sara _9305 _eNeurología
100			_aMurcia García, Francisco José _9304 _eNeurología
100			_aSimón de las Heras, Rogelio _91347 _eNeurología
245	0	0	_aSíndrome de deleción de genes contiguos TSC2/PKD1, _h[artículo]
260			_bAnales de pediatría (Barcelona, Spain: 2003), _c2013
300			_a79(1):42-5.
500			_aFormato 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.
501			_aPMID: 23402778
504			_aContiene 13 referencias
520			_aThe 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.
710			_9267 _aServicio de Neurología-Neurofisiología
710			_9446 _aServicio de Pediatría-Neonatología
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/5/pc5563.pdf _ySolicitar documento
942			_n0 _2ddc _cART