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

• Main Authors: Chunyu Liu (Author), Muhammad Ajmal (Author), Zaineb Akram (Author), Tariq Ghafoor (Author), Muhammad Farhan (Author), Sobia Shafique (Author), Sughra Wahid (Author), Shahar Bano (Author), Jianqiu Xiao (Author), Humayoon Shafique Satti (Author), Feng Zhang (Author), Tahir Naeem Khan (Author)
• Format: Book
• Published: BMC, 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: 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...