BBS4 and Alagille syndrome: Other relevant findings included a NOTCH2 missense variant (c.2503G > T, p. Ala835Ser), classified as VUS and associated with Alagille syndrome, a homozygous nonsense variant in BBS4 (c.172C > T, p. Gln58Ter), and a pathogenic deletion in CYP24A1 (c.428_430del, p. Glu143del), linked to familial hypercalcemia.