BBS1 and Bardet-Biedl syndrome: WES revealed homozygous pathogenic variants in two genes: BBS1 (NM_024649.4) c.437G>C; p.(Arg146Pro) (underlying BBS [71]) and CABP2 (NM_016366) c.419T>G; p.(Met140Arg) (underlying nonsyndromic HL [72]).