Associated Papers
Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C.
Gupta N et al.
Journal of Pediatric Genetics, 2020
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.
Ritelli M et al.
Molecular Genetics & Genomic Medicine, 2019
Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.
Su CT et al.
Human Molecular Genetics, 2015
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Callewaert B et al.
Human Mutation, 2013
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
Urban Z et al.
American Journal of Human Genetics, 2009
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