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. (CROSBI ID 722391)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Simičić Majce, Ana ; Arapović, Adela ; Prgomet, Sandra ; Todorović, Marko ; Lozić, Bernarda ; Saraga- Babić, Mirna ; Sarga, Marijan
engleski
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.
We presented a rare case of a family with BBS, caused by compound heterozygosity of the BBS12 gene
Bardet-Biedl syndrome ; kidney
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
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nije evidentirano
Podaci o prilogu
2937-2937.
2022.
nije evidentirano
objavljeno
10.1007/s00467-022-05680-5
Podaci o matičnoj publikaciji
Podaci o skupu
54th ESPN Annual Meeting
poster
22.06.2022-25.06.2022
Ljubljana, Slovenija
