Conversely, most patients with TINF2 mutations develop TBDs other than the classical phenotype of RS, including not only 11 to 24% of DKC patients [3, 20, 46], but also HHS, idiopathic pulmonary fibrosis, and aplastic anemia [20, 21, 48, 68, 69]. The gene discussed is TINF2; the disease is hypotrichosis 1.