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

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...

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Bibliographic Details
Main Author: Kantaputra P.
Other Authors: Mahidol University
Format: Article
Published: 2023
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Online Access:https://repository.li.mahidol.ac.th/handle/123456789/83693
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Institution: Mahidol University