Genetic screening for Peutz-Jeghers syndrome. Expert Rev Mol Diagn. 2003; 3 :471–479.Ballhausen WG, Gu¨nther K. Genetic screening for Peutz-Jeghers syndrome. Expert Rev Mol Diagn 2003;3:471-9.Ballhausen WG, Gunther K. Genetic screening for Peutz-Jeghers syndrome. Expert Rev Mol Diagn....
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. It is caused by mutations in the serine/threonine kinase 11 gene (LKB1, STK11). About 1 in 100,000 ind
Peutz-Jeghers syndrome is autosomal dominant, meaning that the mutation that causes it is not on one of the sex-linked chromosomes (X and Y) and that one copy of the defective gene, received from either parent, is enough to cause the disorder. The genetic defect can also arise in someone...
(2004). De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. Clinical Genetics, 66, 58–62. CrossRef Higham, P., Alawi, F., & Stoopler, E. T. (2010). Medical management update: Peutz Jeghers syndrome. Oral Surgery, Oral ...
genetic diseaseresourcesand carry outtherelevant study. Peutz-Jegherssyndrome(PJS)is arareautosomaldominantinheriteddisorder,which is characterized by mucocutaneous pigmentation andhamartomatous polyps ofthe gastrointestinal tract.STKll gene(serine/threonine kinase1 1)located at chromosome region19p13.3 is the ...
Peutz-Jeghers syndrome(PJS) is an autosomal dominant disease which is characterized by melanin spots on lips and buccal mucosa, and multiple gastrointestinal hamartomatous polyps. Patients are at risk of forming carcinomas in the gastrointestinal tract, uterus, ovary, breast and other organs. The LK...
摘要 Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)又叫色素沉着息肉综合征,伴有口腔黏膜、口周皮肤等部位色素斑及胃肠道错构瘤性息肉,是一种由丝氨酸/苏氨酸蛋白激酶(LKB1/STK11...展开更多 Peutze-Jeghers syndrome (PJS) is an autosomal dominant genetic disease caused by a germline mutation in the ...
truncatedprotein.ConclusionPointmutationinSTK11maybechiefinChinesewithPJSandthefrequencyofmutationwasfewerthanthatinpreviousreports.ItsuggestedthattheremaybegeneticheterogeneityinPJS.【Keywords】Peutz2JegherssyndromeSTK11genePCRGeneConversion(NatlMedJChina,1999,79:4252427)Peutz2Jegherssysdrome(PJS)是一种常染色体显性...
Twitter Google Share on Facebook polyp (redirected fromPeutz-Jeghers syndrome) Thesaurus Medical Acronyms Encyclopedia Wikipedia Related to Peutz-Jeghers syndrome:Lynch syndrome,Turcot syndrome polyp pedunculate polyp (top) and sessile polyp (bottom) in a section of large intestine ...
The Uruguayan Registry for Peutz-Jeghers Syndrome: Clinical and Genetic Results and Report of a Novel Mutation: 1096Tchekmedyian, AsadurMcGarrity, ThomasAmos, ChristopherBale, SherriBerrueta, JoaquinNabon, NatalieCohen, HenryOfficial journal of the American College of Gastroenterology | ACG...