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

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

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...

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Bibliographic Details
Main Authors: Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang, Tahir Naeem Khan
Format: Article
Language:English
Published: BMC 2021-11-01
Series:BMC Medical Genomics
Subjects:
Autosomal recessive osteopetrosis
Genetic diagnosis
TCIRG1
Disease variants
Online Access:https://doi.org/10.1186/s12920-021-01117-4

Internet

https://doi.org/10.1186/s12920-021-01117-4

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