Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter
Autore:
Angelicheva, D; Turnev, I; Dye, D; Chandler, D; Thomas, PK; Kalaydjieva, L;
Indirizzi:
Edith Cowan Univ, Ctr Human Genet, Perth, WA 6027, Australia Edith Cowan Univ Perth WA Australia 6027 Genet, Perth, WA 6027, Australia Med Univ Sofia, Dept Neurol, Sofia, Bulgaria Med Univ Sofia Sofia Bulgaria Univ Sofia, Dept Neurol, Sofia, Bulgaria Royal Free & Univ Coll, Sch Med, Dept Clin Neurosci, London, England RoyalFree & Univ Coll London England pt Clin Neurosci, London, England
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 5, volume: 7, anno: 1999,
pagine: 560 - 566
SICI:
1018-4813(199907)7:5<560:CCFDN(>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
HOMEOTIC GENE SPALT; DEMYELINATING NEUROPATHY; DROSOPHILA; REGION; EXPRESSION; HOMOLOG; LINKAGE; PROTEIN;
Keywords:
developmental disorder; hypomyelinating neuropathy; gene mapping; genetic isolate; Gypsies;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Kalaydjieva, L Edith Cowan Univ, Ctr Human Genet, Joondalup Campus, Perth,WA 6027, Australia Edith Cowan Univ Joondalup Campus Perth WA Australia 6027 a
Citazione:
D. Angelicheva et al., "Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter", EUR J HUM G, 7(5), 1999, pp. 560-566

Abstract

We have identified a novel developmental disorder with complex phenotypic characteristics involving primarily the nervous system, which appears to becommon in a specific Gypsy group in Bulgaria. We propose to refer to the syndrome as congenital cataracts facial dysmorphism neuropathy (CCFDN). We have assigned the disease locus to the telomeric region of chromosome 18q. Linkage disequilibrium and highly conserved haplotypes suggest genetic homogeneity and founder effect. CCFDN co-localises with an EST which shows high homology to a conserved Drosophila gene involved in the regulation of nervous system development in vertebrates.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 22:50:28