Article
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
American journal of human genetics - 1 Nov 2009
Urban Zsolt, Hucthagowder Vishwanathan, Schürmann Nura, Todorovic Vesna, Zilberberg Lior, Choi Jiwon, Sens Carla, Brown Chester W, Clark Robin D, Holland Kristen E, Marble Michael, Sakai Lynn Y, Dabovic Branka, Rifkin Daniel B, Davis Elaine C
Abstract excerpt
We report recessive mutations in the gene for the latent transforming growth factor-beta binding protein 4 (LTBP4) in four unrelated patients with a human syndrome disrupting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. All patients had severe respiratory distress, with cystic and atelectatic changes in the lungs complicated by tracheomalacia and diaphragmatic...
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