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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2023
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| 在線閱讀: | https://repository.li.mahidol.ac.th/handle/123456789/83693 |
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