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Titolo:
Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?
Autore:
Calin, G; Wijnen, J; van der Klift, H; Ionita, A; Mulder, A; Breukel, C; Smits, R; Dauwerse, H; Hansson, K; Calin, S; Stefanescu, D; Oproiu, A; Fodde, R;
Indirizzi:
Victor Babes Inst, Dept Med Genet, R-76201 Bucharest, Romania Victor BabesInst Bucharest Romania R-76201 , R-76201 Bucharest, Romania Fundeni Hosp, Dept Gastroenterol, Bucharest, Romania Fundeni Hosp Bucharest Romania , Dept Gastroenterol, Bucharest, Romania Leiden Univ, Med Ctr, Sylvius Lab, Dept Human Genet,MGC, Leiden, Netherlands Leiden Univ Leiden Netherlands ept Human Genet,MGC, Leiden, Netherlands
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 5, volume: 7, anno: 1999,
pagine: 609 - 614
SICI:
1018-4813(199907)7:5<609:MHAFAP>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
COLI APC GENE; MUTATIONS; CANCER;
Keywords:
APC; FAP; MFS; Marfan syndrome; adenomatous polyposis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Calin, G Victor Babes Inst, Dept Med Genet, Splaiul Independentei 99-101, R-76201 Bucharest, Romania Victor Babes Inst Splaiul Independentei 99-101 Bucharest Romania R-76201
Citazione:
G. Calin et al., "Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?", EUR J HUM G, 7(5), 1999, pp. 609-614

Abstract

Familial adenomatous polyposis (FAP) can be considered as a condition of the whole body as extracolonic features derived from all the three embryoniclineages are recorded with varying frequency in addition to the presence of multiple adenomas in the large intestine. Here, we describe two unrelatedcases of FAP with unusual extracolonic phenotypes, namely several abnormalities of mesodermal origin strongly resembling Marfan syndrome (MFS) or a Marfan-like habitus, Conventional cytogenetic and FISH analysis did not reveal any gross chromosomal rearrangement on the long arm of chromosome 5 where the APC and FBN2 genes were located, However, in case 2 the FAP-causing mutation in the APC gene was found in the donor splice site of exon 4 and was shown to result in a frameshift and a premature termination codon, We propose that such connective tissue abnormalities may result from germline APCmutations in combination with specific genetic and/or environmental modifying factors.

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Documento generato il 04/12/20 alle ore 19:59:23