Leggett BA, Young JP, Barker M (2003) Peutz-Jeghers syndrome: genetic screening. Expert Rev Anticancer Ther 3(4):518-524. doi:10.1586/14737140.3.4.518Leggett BA, Young JP, Barker M (2003) Peutz-Jeghers syn- drome: genetic screening. Expert Rev Anticancer Ther 3:518-524...
The Cronkhite-Canada syndrome: An analysis of clinical and pathologic features and therapy in 55 patients. Medicine (Baltimore), 61, 293–309. CrossRef Dong, K., & Li, B. (2004). Peutz-Jeghers syndrome: case reports and update on diagnosis and treatment. Chinese Journal of Digestive ...
波伊茨-耶格综合征(Peutz-Jeghers syndrome,PJS),也被称为黑斑息肉综合征,是常染色体显性遗传的综合征,是一类伴有黏膜、皮肤色素沉着的全胃肠道多发性息肉病。2018年5月该疾病被列入国家卫生健康委员会等5部门联合制定的《第一批罕见病目录》。 PJS发病率约 1...
Peutz-Jeghers综合征(peutz-jeghers syndrome,PJS)是一类少见的以胃肠道多发性息肉和黏膜黑斑为临床表现的综合征。病因尚不完全清晰,临床表现主要以消化道症状和皮肤黏膜色素沉着为主。诊断主要依靠患者临床表现及辅助检查。内镜检查常可发现胃肠道多发性息肉,基因检测常可发现丝氨酸/苏氨酸激酶11(serine/threonine kinase...
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...
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This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile ... S Syngal,RE Brand,JM Church,... - 《American Journal...
Peutz-Jeghers综合征1例及其基因诊断 于妍妍,郭洪,石彦,刘丹,许雪青,白云 Keywords: Peutz-Jeghers综合征,STK,基因诊断,突变 Full-Text Cite this paper Add to My Lib Abstract: References [1] 于妍妍, 郭洪, 石彦, 等. Peutz-Jeghers综合征1例及其基因诊断[J].第三军医大学学报,2011,33(12):1249,...
Peutz-Jeghers氏症候單已為人熟知是一種遺傳性疾病,其特徵是皮膚粘膜色素沈著及腸息肉。此種病人直到因腸套疊引起陣發性腹痛或腸阻塞,或因消化道出血引起貧血,或因營養不良而覓醫求治時才發現。此病一般是以姑息性治療法處理為原則。但於發生腸阻塞,大量消化道出血及腸息肉發生惡性化時需外科手術治療。因腸息肉發...
One individual previously classified with Peutz-Jeghers syndrome had a PTEN deletion. Among 9 individuals with an unknown hamartomatous polyposis, 4 had ... Sweet,Kevin - 《Jama》 被引量: 736发表: 2005年 Genetic Testing by Cancer Site in Peutz-Jeghers syndrome associated with germline STK11 mut...