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Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis

✍ Scribed by Deepthi C. de Silva; Morag F. Wright; David A. J. Stevenson; Caroline Clark; Elizabeth S. Gray; John D. Holmes; John C. S. Dean; Neva E. Haites; Malcolm G. Dunlop


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
502 KB
Volume
77
Category
Article
ISSN
0008-543X

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✦ Synopsis


BACKGROUND.

Familial adenomatous polyposis (FAP) is a dominantly inherited disorder characterized by the presence of more than 100 adenomatous polyps in the colon and rectum starting in the second decade of life. FAP is associated with extra colonic manifestations, including desmoid tumors.


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✍ Paul Rozen; Tova Naiman; Hana Strul; Philipp Taussky; Nataly Karminsky; Ruth Sho πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 92 KB πŸ‘ 1 views

## Abstract ## BACKGROUND The authors previously found the I1307K adenomatous polyposis coli (__APC__) gene variant in 5% of Ashkenazi control participants, in 15.4% of those who had familial colorectal neoplasia, but also in 1.6% of non‐Ashkenazi control participants. In this study, they evaluate