Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome

• Main Authors: Piranit Kantaputra, Yeliz Guven, Tugba Kalayci, Pelin Karaca Özer, Wannakamon Panyarak, Worrachet Intachai, Bjorn Olsen, Bruce M. Carlson, Oranud Praditsap, Sissades Tongsima, Chumpol Ngamphiw, Peeranat Jatooratthawichot, Abigail S. Tucker, James R. Ketudat Cairns
• Other Authors: Siriraj Hospital
• Format: Article
• Published: 2022
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/73263
• Institution: Mahidol University

Mutations in LTBP3 are associated with Dental Anomalies and Short Stature syndrome (DASS; MIM 601216), which is characterized by hypoplastic type amelogenesis imperfecta, hypodontia, underdeveloped maxilla, short stature, brachyolmia, aneurysm and dissection of the thoracic aorta. Here we report a n...