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Titolo:
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN
Autore:
Celebi, JT; Tsou, HC; Chen, FF; Zhang, H; Ping, XL; Lebwohl, MG; Kezis, J; Peacocke, M;
Indirizzi:
Columbia Univ Coll Phys & Surg, Dept Dermatol, Presbyterian Hosp, New York, Columbia Univ Coll Phys & Surg New York NY USA 10032 rian Hosp, New York, Mt Sinai Med Ctr, Mt Sinai Sch Med, Dept Dermatol, New York, NY 10029 USA Mt Sinai Med Ctr New York NY USA 10029 t Dermatol, New York, NY 10029 USA
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 5, volume: 36, anno: 1999,
pagine: 360 - 364
SICI:
0022-2593(199905)36:5<360:PFOCSA>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
RILEY-RUVALCABA-SYNDROME; MULTIPLE HAMARTOMA SYNDROME; LHERMITTE-DUCLOS DISEASE; BREAST-CANCER; GENE; HEMANGIOMAS; POLYPOSIS; LIPOMAS; MMAC1; RISK;
Keywords:
Cowden syndrome; Bannayan-Zonana syndrome; PTEN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Peacocke, M Columbiathniv Coll Phys & Surg, Dept Dermatol, Presbyterian Hosp, 630 W 168 Columbia Univ Coll Phys & Surg 630 W 168th St New York NY USA10032
Citazione:
J.T. Celebi et al., "Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN", J MED GENET, 36(5), 1999, pp. 360-364

Abstract

Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders, suggesting allelism. We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings ofCS and two male members with the phenotypic findings of BZS. To our knowledge, this is the first report that shows the presence of separate subjects with CS and with BZS in a single family associated with a single germline PTEN mutation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/09/20 alle ore 02:12:30