Article
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.
Clinical genetics - 1 Jul 2022
Kantaputra Piranit, Guven Yeliz, Kalayci Tugba, Özer Pelin Karaca, Panyarak Wannakamon, Intachai Worrachet, Olsen Bjorn, Carlson Bruce M, Praditsap Oranud, Tongsima Sissades, Ngamphiw Chumpol, Jatooratthawichot Peeranat, Tucker Abigail S, Ketudat Cairns James R
Abstract excerpt
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 novel (p.Arg545ProfsTer22) and a recurrent (c.3107-2A > G) LTBP3 variants, in a Turkish family affected with DASS....
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