Síndrome de deleción de genes contiguos TSC2/PKD1-Reference-Cited by-同舟云学术

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Síndrome de deleción de genes contiguos TSC2/PKD1

Published:2013-07 Issue:1 Volume:79 Page:42-45
ISSN:1695-4033
Container-title:Anales de Pediatría
language:es
Short-container-title:Anales de Pediatría

Author:

Llamas Velasco S.,Camacho Salas A.,Vidales Moreno C.,Ceballos Rodríguez R.M.,Murcia García F.J.,Simón de la Heras R.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference13 articles.

1. Tuberous sclerosis;Paolo Curatolo;Lancet,2008

2. Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome;Woerner;Genet Med,2006

3. Tuberous sclerosis and polycystic kidney diseasein a 3-month-old infant;Laass;Pediatr Nephrol,2004

4. Spécificités de la sclérose tubéreuse de Bourneville chez l’enfant;Riquet;Arch Pediatr,2010

5. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs;Dabora;Am J Hum Genet,2001

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts;CEN Case Reports;2024-02-27

2. TSC2 / PKD1 contiguous gene syndrome;Nefrología (English Edition);2017-11

3. Síndrome de genes contiguos TSC2 / PKD1;Nefrología;2017-11

4. Beyond polycystic kidney disease;BMJ Case Reports;2017-10-04

5. Two cases of TSC2/PKD1 contiguous gene deletion syndrome;Journal of Genetic Medicine;2016-06-30

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