LTBP4 and cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies: Mutations in both LTBP4 isoforms lead to autosomal recessive cutis laxa type 1C (ARCL1C), initially named Urban-Rifkin-Davis Syndrome, and an ARCL1C-like phenotype is seen in LTBP4 deficient mice (Sterner-Kock et al., 2002; Urban et al., 2009; Bultmann-Mellin et al., 2015).