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A role of the endothelial nitric oxide system in acute renal colic caused by ureteral stone (vol 36, pg 266, 2018)

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dc.contributor.authorBulbul, E.; Sener, E. F.; Gunay, N. E.; Taslidere, B.; Taslidere, E.; Koyuncu, S.; Gunay, N.
dc.date.accessioned2021-03-14T19:17:52Z
dc.date.available2021-03-14T19:17:52Z
dc.date.issued1.05.2019
dc.description.abstractSotos syndrome is characterized by overgrowth, macrocephaly, distinctive facial features, and learning disabilities and is associated with alterations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. Due to the advanced bone age, the eventual adult height is usually at the upper limit of normal. In this case report, a 6-year and 10-month old boy who presented with Sotos syndrome was described. He also had increased testicular volumes with advanced bone age. The stimulated levels of gonadotropins revealed central precocious puberty and brain magnetic resonance imaging (MRI) showed a pineal cyst. A heterozygous duplication variant [NM_022455.4:c.4560dup; p.(His1521Thrfs*9)] in the NSD1 was identified. Triptorelin acetate treatment was started. The aim was to report the novel duplication variant in the NSD-1 in a patient with Sotos syndrome accompanied by a pineal cyst and central precocious puberty, and also to discuss the rationale for treating precocious puberty.
dc.identifier.doi10.1016/j.ajem.2018.04.037
dc.identifier.eissn1532-8171
dc.identifier.issn0735-6757
dc.identifier.pubmed30528049
dc.identifier.urihttp://hdl.handle.net/20.500.12645/28552
dc.identifier.wosWOS:000465499500059
dc.language.isoen
dc.subjectCentral precocious puberty; GnRH analogue; NSD1 gene; Pineal cyst; Sotos syndrome
dc.titleA role of the endothelial nitric oxide system in acute renal colic caused by ureteral stone (vol 36, pg 266, 2018)
dc.typeCorrection
dspace.entity.typePublication
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