A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report-Reference-Cited by-同舟云学术

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A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report

Published:2017-02-23 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Chen Jing-Hui,Zheng Jing-Jing,Guo Qin,Liu Chao,Luo Bin,Tang Shuang-Bo,Cheng Jian-Ding,Huang Er-Wen

Funder

the National Natural Science Foundation

the Natural Science Foundation of Guangdong Province China

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0373-z.pdf

Reference19 articles.

1. Jeghers H, Mc KV, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med. 1949;241(26):1031–6.

2. Westerman AM, Entius MM, de Baar E, et al. Peutz-Jeghers syndrome: 78-year follow-up of the original family. Lancet. 1999;353(9160):1211–5.

3. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006;4(4):408–15.

4. Aaltonen LA. Hereditary intestinal cancer. Semin Cancer Biol. 2000;10(4):289–98.

5. Sommerhaug RG, Mason T. Peutz-Jeghers syndrome and ureteral polyposis. JAMA. 1970;211(1):120–2.

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 novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome;BMC Gastroenterology;2022-12-22

2. Gastric-phenotype Mucinous Carcinoma of the Fallopian Tube with Secondary Ovarian Involvement in a Woman with Peutz-Jeghers Syndrome: A Case Report;International Journal of Surgical Pathology;2022-04-24

3. Intussusception Caused by Peutz-Jeghers Syndrome;Cureus;2022-04-03

4. A novel STK11 gene mutation (c.388dupG, p.Glu130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107-170;Genes & Diseases;2022-03

5. Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history;Orphanet Journal of Rare Diseases;2021-06-08

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