Further studies in a Finnish CHH patient cohort [72], identified heterozygous variants in the SEMA3A gene in three KS patients (NM_006080.2: c.458A>G, p.N153S; c.1253A>G, p.N418S; c.1303G>A, p.V435I), two of which had a previously reported mutation in the FGFR1 gene. The gene discussed is FGFR1; the disease is cartilage-hair hypoplasia.