Condition: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities


rs267607229 in LTBP4 gene and Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities PMID 19836010 2009 Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.

PMID 22829427 2013 Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.