In:
Tumori Journal, SAGE Publications, Vol. 95, No. 6 ( 2009-11), p. 819-822
Abstract:
Familial adenomatous polyposis is an inherited disorder characterized by the development of hundreds of colorectal adenomas during adolescence, which in many cases will transform into colorectal cancer by the fourth decade of life, along with the development of various malignant tumors including hepatoblastoma. We report on a female patient with a de novo interstitial deletion of 5q21.3-q23.3, encompassing the APC gene, associated with adenomatous polyposis and early colorectal cancer, hepatoblastoma, epidermoid cysts, mental retardation, several mild dysmorphic signs and lower limb venous thrombosis.
Type of Medium:
Online Resource
ISSN:
0300-8916
,
2038-2529
DOI:
10.1177/030089160909500629
Language:
English
Publisher:
SAGE Publications
Publication Date:
2009
detail.hit.zdb_id:
280962-X
detail.hit.zdb_id:
2267832-3