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Titolo:
Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes
Autore:
Stratakis, CA;
Indirizzi:
NICHHD, Unit Genet & Endocrinol, Dev Endocrinol Branch, NIH, Bethesda, MD 20892 USA NICHHD Bethesda MD USA 20892 docrinol Branch, NIH, Bethesda, MD 20892 USA
Titolo Testata:
PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
fascicolo: 1, volume: 19, anno: 2000,
pagine: 41 - 68
SICI:
1522-7952(200001/02)19:1<41:GOCCAR>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
PEUTZ-JEGHERS-SYNDROME; SPOTTY SKIN PIGMENTATION; PSAMMOMATOUS MELANOTIC SCHWANNOMA; ADRENOCORTICAL NODULAR DYSPLASIA; LAUGIER-HUNZIKER SYNDROME; INCLUDING CARDIAC MYXOMA; AU-LAIT SPOTS; ENDOCRINE OVERACTIVITY; POLYPOSIS SYNDROMES; LEOPARD-SYNDROME;
Keywords:
lentigines; myxoma; carney complex; multiple endocrine neoplasia; Peutz-Jeghers syndrome; Ruvalcaba-Myhre-Smith syndrome; LEOPARD syndrome; arterial dissections; genetics; review;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
128
Recensione:
Indirizzi per estratti:
Indirizzo: Stratakis, CA NICHHD, Unit Genet & Endocrinol, Dev Endocrinol Branch, NIH,Bldg 10,Room 10N262,10 Ctr Dr,MSC 1862, Bethesda, MD 20892 USA NICHHD Bldg10,Room 10N262,10 Ctr Dr,MSC 1862 Bethesda MD USA 20892
Citazione:
C.A. Stratakis, "Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes", PEDIAT PATH, 19(1), 2000, pp. 41-68

Abstract

Carney complex is a multiple endocrine neoplasia (MEN) syndrome that affects the adrenal cortex, the pituitary and thyroid glands, and the gonads. The complex is also associated with skin and mucosa pigmentation abnormalities and myxoid and other neoplasms of mesenchymal and neural crest origin. Thus, this syndrome also belongs to another group of genetic disorders, the lentiginoses (or lentigenoses), which include the Peutz-Jeghers, LEOPARD, arterial dissections and lentiginosis, and Laugier-Hunziker syndromes, Cowdendisease and Ruvalcaba-Myhre-Smith (Bannayan-Zonana) syndrome and the centrofacial, benign patterned and segmental lentiginoses, all of which can be associated with a variety of developmental defects. The inheritance of Carney complex, just like that of the other MENs and the lentiginoses, is autosomal dominant. Genetic loci or genes have been identified for Carney complex, Peutz-Jeghers and Ruvalcaba-Myhre-Smith syndromes, but not for other lentiginoses. Elucidation of the molecular defects responsible for these disorders is expected to shed light on aspects of early neural crest differentiation, the regulation of pigmentation, the development of autonomous endocrine function, and endocrine and nonendocrine tumorigenesis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/10/20 alle ore 00:49:17