Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants

• المؤلفون الرئيسيون: Chunyu Liu (مؤلف), Muhammad Ajmal (مؤلف), Zaineb Akram (مؤلف), Tariq Ghafoor (مؤلف), Muhammad Farhan (مؤلف), Sobia Shafique (مؤلف), Sughra Wahid (مؤلف), Shahar Bano (مؤلف), Jianqiu Xiao (مؤلف), Humayoon Shafique Satti (مؤلف), Feng Zhang (مؤلف), Tahir Naeem Khan (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2021-11-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Abstract Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns. A precise molecular diagnosis is necessary for prognosis and for prescribing trea...