Bardet-Biedl syndrome, NGS


Diagnose Bardet-Biedl syndrome genetically; clinical care and family counseling.
Genelist (30): ALMS, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP164, CEP19, CEP290, CFAP418, IFT172, IFT27, IFT74, LRRC45, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, SCLT1, TMEM67, TRIM32, TTC21B, TTC8, WDPCP