التفاصيل البيبلوغرافية
| العنوان: |
Bone health in RASopathies |
| المؤلفون: |
Stevenson, David A., Viscogliosi, Germana, Leoni, Chiara |
| المصدر: |
American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 190, issue 4, page 459-470 ; ISSN 1552-4868 1552-4876 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2022 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
The RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlapping clinical features (e.g., neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Noonan syndrome) including musculoskeletal manifestations. Osteopenia and osteoporosis are reported in many of the RASopathies suggesting a shared pathogenesis. Even though osteopenia and osteoporosis are often detected and fractures have been reported, the clinical impact of bone mineralization defects on the skeleton of the various syndromes is poorly understood. Further knowledge of the role of the Ras/MAPK pathway on the bone cellular function, and more detailed musculoskeletal phenotyping will be critical in helping to develop therapies to improve bone health in the RASopathies. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1002/ajmg.c.32020 |
| الإتاحة: |
https://doi.org/10.1002/ajmg.c.32020Test |
| حقوق: |
http://onlinelibrary.wiley.com/termsAndConditions#vorTest |
| رقم الانضمام: |
edsbas.CE5CAA90 |
| قاعدة البيانات: |
BASE |
