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

• المؤلف الرئيسي: Kantaputra P.
• مؤلفون آخرون: Mahidol University
• التنسيق: مقال
• منشور في: 2023
• الموضوعات: Biochemistry, Genetics and Molecular Biology
• الوصول للمادة أونلاين: https://repository.li.mahidol.ac.th/handle/123456789/83693

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...