Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report

Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report

Abstract Background Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarit...

Full description

Bibliographic Details
Main Authors: Shengjie Tian, Jianhua Zhu, Yaogang Lu
Format: Article
Language:English
Published: BMC 2018-02-01
Series:BMC Medical Genetics
Subjects:
Fibrodysplasia ossificans progressive
DNA sequence
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-018-0543-7

Internet

http://link.springer.com/article/10.1186/s12881-018-0543-7

Similar Items