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Pregled bibliografske jedinice broj: 82264

Časopis

Autori: Hećimović, Silva; Bago, Ružica; Mužinić, Dubravka; Begović, Davor; Pavelić, Krešimir
Naslov: The first case of the FRAXE form of inherited mental retardation in Croatia
Izvornik: European Journal of Pediatrics (0340-6199) 161 (2002), 2; 112-113
Vrsta rada: članak
Ključne riječi: FRAXE; mental retardation; Croatia
Sažetak:
Our molecular and clinical data show that FRAXE mental retardation is phenotypically very nonspecific and mild and that every woman with any mentally retarded and/or learning disabled family member should be investigated for the FRAXA and FRAXE loci of the fragile X syndrome. Since this was the first case of FRAXE mental retardation detected during a 5-year period of molecular diagnosis of FRAXA and FRAXE mental retardation in our country, we agree that the FRAXE form of mental handicap is very rare and is usually detected by chance.
Projekt / tema: 0098092, 0098093, 00981103, 00981104, 0108027
Izvorni jezik: ENG
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti,Kliničke medicinske znanosti
URL cjelovitog teksta:
Google Scholar: The first case of the FRAXE form of inherited mental retardation in Croatia



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