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Titolo:
Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals
Autore:
Lo Muzio, L; Nocini, PF; Savoia, A; Consolo, U; Procaccini, M; Zelante, L; Pannone, G; Bucci, P; Dolci, M; Bambini, F; Solda, P; Favia, G;
Indirizzi:
Univ Naples Federico II, Div Oral Pathol & Med, Naples, Italy Univ Naples Federico II Naples Italy v Oral Pathol & Med, Naples, Italy Univ Verona, Div Oral Surg, I-37100 Verona, Italy Univ Verona Verona Italy I-37100 a, Div Oral Surg, I-37100 Verona, Italy Osped Casa Sollievo della Sofferenza, IRCCS, Foggia, Italy Osped Casa Sollievo della Sofferenza Foggia Italy IRCCS, Foggia, Italy Univ Modena, Div Oral Surg, I-41100 Modena, Italy Univ Modena Modena Italy I-41100 a, Div Oral Surg, I-41100 Modena, Italy Univ Bari, Inst Oral & Maxillofacial Surg, Bari, Italy Univ Bari Bari Italy Bari, Inst Oral & Maxillofacial Surg, Bari, Italy Univ Ancona, Inst Odontostomatol Sci, Ancona, Italy Univ Ancona Ancona Italy Ancona, Inst Odontostomatol Sci, Ancona, Italy
Titolo Testata:
CLINICAL GENETICS
fascicolo: 1, volume: 55, anno: 1999,
pagine: 34 - 40
SICI:
0009-9163(199901)55:1<34:NBCCSC>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
GORLIN-SYNDROME; HUMAN HOMOLOG; DEVELOPMENTAL DEFECTS; GENE; MUTATIONS; CHROMOSOME-9; FAMILIES;
Keywords:
basal cell carcinoma (BCC); Gorlin syndrome; nevoid basal cell carcinoma syndrome (NBCCS); odontogenic keratocyst;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Lo Muzio, L Via Carelli 28, I-71100 Foggia, Italy Via Carelli 28 Foggia Italy I-71100 8, I-71100 Foggia, Italy
Citazione:
L. Lo Muzio et al., "Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals", CLIN GENET, 55(1), 1999, pp. 34-40

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. The syndrome is characterised by numerous basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, palmar and:;or plantar pits, skeletal abnormalities and intracranial calcifications. In this paper, the clinical features of 37 Italian patients are reviewed, Jaw cysts and calcification of falx cerebri were the most frequently observed anomalies, followed by BCCs and palmar;plantar pits. Similar to the caseof African-Americans, the relatively low frequency of BCCs in the Italian population is probably due to protective skin pigmentation. A future searchbased on mutation screening might establish a possible genotype-phenotype correlation in Italian patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/07/20 alle ore 22:11:19