| 1 | CPVS, LTBP4 |
| Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. | |
| Urban Z, Hucthagowder V, Schürmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC. | |
| Am J Hum Genet 85(5):593-605. Epub 2009 Oct 15.PMID: 19836010 2009 | |