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Titolo:
DELETION OF PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE
Autore:
ARCH EM; GOODMAN BK; VANWESEP RA; LIAW D; CLARKE K; PARSONS R; MCKUSICK VA; GERAGHTY MT;
Indirizzi:
JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,600 N WOLFE ST,BLALOCK 1008 BALTIMORE MD 21287 JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET BALTIMORE MD 21287 JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT BALTIMORE MD 21287 JOHNS HOPKINS UNIV,SCH MED,DEPT MED BALTIMORE MD 21287 JOHNS HOPKINS UNIV,SCH MED,DEPT PATHOL BALTIMORE MD 21287 JOHNS HOPKINS UNIV,SCH MED,KENNEDY KRIEGER INST BALTIMORE MD 21287 COLUMBIA UNIV,COLL PHYS & SURG,DEPT PATHOL NEW YORK NY 10027 SINAI HOSP,DEPT PATHOL BALTIMORE MD 21215
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 71, anno: 1997,
pagine: 489 - 493
SICI:
0148-7299(1997)71:4<489:DOPIAP>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTIPLE HAMARTOMA SYNDROME; LHERMITTE-DUCLOS DISEASE; CHROMOSOME-10; POLYPOSIS;
Keywords:
BANNAYAN-RILEY-RUVALCABA SYNDROME; BANNAYAN-ZONANA SYNDROME; RUVALCABA-MYHRE SYNDROME; RILEY-SMITH SYNDROME; COWDEN DISEASE; PTEN; INTERSTITIAL DELETION; 10Q23.2-Q24.1; INTESTINAL POLYPS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
E.M. Arch et al., "DELETION OF PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE", American journal of medical genetics, 71(4), 1997, pp. 489-493

Abstract

We report on an 18-month-old boy with an interstitial deletion at 10q23.2-q24.1. This region includes the PTEN gene, mutations of which have been reported to cause Cowden disease. Our patient presented with manifestations of Bannayan-Riley-Ruvalcaba (ERR) syndrome. The ERR syndrome is a rare disorder which presents most commonly in childhood. Cowden disease is a disease of adulthood and is inadequately described in children. Because of the considerable phenotypic overlap between the two disorders, and the cytogenetic and molecular findings in our patient, we suggest that ERR syndrome and Cowden disease are allelic. (C) 1997 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 08:48:06