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

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 a...

Source: BMC Medical Genetics - February 27, 2018 Category: Genetics & Stem Cells Authors: Shengjie Tian, Jianhua Zhu and Yaogang Lu Tags: Case report Source Type: research