These included genes linked to Fraser syndromes (Fras1, Frem2, Grip1), osteogenesis imperfecta and related bone fragility (Bmp1a, Col1a1, Col1a2, Col2a1), skeletal dysplasia (Fgfr3, Flnb, Nek1, Ebp), limb and heart malformations (Tbx5a), and cutaneous or connective tissue disorders (St14, Lmna, Pex1, Aspa). The gene discussed is ASPA; the disease is connective tissue disorder.