JAG1 and cartilage-hair hypoplasia: In this study, we performed target next-generation sequencing in 51 KS and 76 normosmic CHH (nCHH) probands (Milan cohort) and identified 4 heterozygous putative pathogenic rare sequence variants (RSVs) in JAG1 among 4 CHH probands: p.Arg117Gly, p.Phe206Tyr, p.Thr931Ile, and p.Asp1160Asn.