In humans, biallelic LTBP4 pathogenic variants cause an autosomal recessive syndrome (OMIM: 613177) characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula [28]. Here, LTBP4 is linked to connective tissue disorder.