Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation-Reference-Cited by-同舟云学术

Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation

Published:2013-09-21 Issue:5 Volume:6 Page:361-367
ISSN:1865-7257
Container-title:Clinical Journal of Gastroenterology
language:en
Short-container-title:Clin J Gastroenterol

Author:

Honda Yutaka,Sato Yuichi,Yokoyama Junji,Kobayashi Masaaki,Narisawa Rintaro,Kawauchi Yusuke,Hoshi Takahiro,Yajima Kazuhito,Kanda Tatsuo,Ajioka Yoichi,Hatakeyama Katsuyoshi,Aoyagi Yutaka

Publisher

Springer Science and Business Media LLC

Subject

Gastroenterology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12328-013-0413-y.pdf

Reference41 articles.

1. Sachatello CR, Pickren JW, Grace JT. Generalized juvenile gastrointestinal polyposis. A hereditary syndrome. Gastroenterology. 1970;58:699–708.

2. Stemper TJ, Kent TH, Summers RW. Juvenile polyposis and gastrointestinal carcinoma. Ann Intern Med. 1975;83:639–46.

3. van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, et al. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut. 2008;57:623–7.

4. Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Gene. 2009;75:79–85.

5. Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Gene. 2007;44:702–9.

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