Pregled bibliografske jedinice broj: 1212556
Bardet-Biedl syndrome caused by compound heterozygosity of BBS12 gene in one family: a case report. In: Abstracts of the 54th ESPN Annual Meeting, Ljubljana, Slovenia.
Bardet-Biedl syndrome caused by compound heterozygosity of BBS12 gene in one family: a case report. In: Abstracts of the 54th ESPN Annual Meeting, Ljubljana, Slovenia. // Abstracts of the 54th ESPN Annual Meeting, Ljubljana, Slovenia // Pediatr Nephrol. 2022 ; 37(11)
Ljubljana, Slovenija, 2022. str. 2937-2937 doi:10.1007/s00467-022-05680-5 (poster, međunarodna recenzija, sažetak, stručni)
CROSBI ID: 1212556 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Bardet-Biedl syndrome caused by
compound heterozygosity of BBS12 gene in one
family: a case report. In: Abstracts of the 54th
ESPN Annual Meeting, Ljubljana, Slovenia.
Autori
Simičić Majce, Ana ; Arapović, Adela ; Prgomet, Sandra ; Todorović, Marko ; Lozić, Bernarda ; Saraga- Babić, Mirna ; Sarga, Marijan
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni
Izvornik
Abstracts of the 54th ESPN Annual Meeting, Ljubljana, Slovenia // Pediatr Nephrol. 2022 ; 37(11)
/ - , 2022, 2937-2937
Skup
54th ESPN Annual Meeting
Mjesto i datum
Ljubljana, Slovenija, 22.06.2022. - 25.06.2022
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
Bardet-Biedl syndrome ; kidney
Sažetak
We presented a rare case of a family with BBS, caused by compound heterozygosity of the BBS12 gene
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
KBC Split,
Medicinski fakultet, Split
Profili:
Mirna Saraga-Babić
(autor)
Adela Arapović
(autor)
Bernarda Lozić
(autor)
Marijan Saraga
(autor)