Bi‐allelic loss‐of‐function novel variants in LTBP3 ‐related skeletal dysplasia: Report of first patient from India
| العنوان: | Bi‐allelic loss‐of‐function novel variants in |
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| المؤلفون: | Madhulika Kabra, Ishrat Siddiqui, Ravneet Kaur, Neerja Gupta, Vijay Prakash Mathur, Manisha Jana |
| المصدر: | American Journal of Medical Genetics Part A. 182:1944-1946 |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Genetics, DASS, 030105 genetics & heredity, Biology, medicine.disease, Short stature, Phenotype, Brachyolmia, 03 medical and health sciences, 030104 developmental biology, Dysplasia, medicine, Amelogenesis imperfecta, medicine.symptom, Gene, Genetics (clinical), Function (biology) |
| الوصف: | Dental anomalies and short stature (DASS) has been recently identified as a distinct entity, associated with bi-allelic hypomorphic variants in LTBP3 gene. Only 20 individuals from nine families have been previously reported, with a consistent phenotype of short stature, brachyolmia, and amelogenesis imperfecta. We report the first case from India, with novel radiographic and molecular findings in LTBP3 gene, thereby expanding the phenotypic spectrum of DASS. |
| تدمد: | 1552-4833 1552-4825 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::0f8f7b776919739b86b55b9e22c17765Test https://doi.org/10.1002/ajmg.a.61629Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........0f8f7b776919739b86b55b9e22c17765 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524833 15524825 |
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