Napredna pretraga

Pregled bibliografske jedinice broj: 82264

The first case of the FRAXE form of inherited mental retardation in Croatia


Hećimović, Silva; Bago, Ružica; Mužinić, Dubravka; Begović, Davor; Pavelić, Krešimir
The first case of the FRAXE form of inherited mental retardation in Croatia // European Journal of Pediatrics, 161 (2002), 2; 112-113 (međunarodna recenzija, članak, znanstveni)


Naslov
The first case of the FRAXE form of inherited mental retardation in Croatia

Autori
Hećimović, Silva ; Bago, Ružica ; Mužinić, Dubravka ; Begović, Davor ; Pavelić, Krešimir

Izvornik
European Journal of Pediatrics (0340-6199) 161 (2002), 2; 112-113

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove
Institut "Ruđer Bošković", Zagreb,
Medicinski fakultet, Zagreb

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE