Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) inACVR1

Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis

(2011) Christopher P. Barnett et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H

(2011) Satoshi Ohte et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Role of Altered Signal Transduction in Heterotopic Ossification and Fibrodysplasia Ossificans Progressiva

(2011) Eileen M. Shore et al.   Current Osteoporosis Reports

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

(2010) Celia L. Gregson et al.   BONE

Molecular Consequences of the ACVR1R206HMutation of Fibrodysplasia Ossificans Progressiva

(2010) Gin-Ah Song et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Recurrent Mutation c.617G>A in the ACVR1 Gene Causes Fibrodysplasia Ossificans Progressiva in Two Chinese Patients

(2009) Yue Sun et al.   CALCIFIED TISSUE INTERNATIONAL

Mutational screening ofACVR1gene in Brazilian fibrodysplasia ossificans progressiva patients

(2009) DR Carvalho et al.   CLINICAL GENETICS

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

(2009) Ilham Ratbi et al.   CLINICAL RHEUMATOLOGY

Functional Analysis of saxophone, the Drosophila Gene Encoding the BMP Type I Receptor Ortholog of Human ALK1/ACVRL1 and ACVR1/ALK2

(2009) V. Twombly et al.   GENETICS

Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

(2009) Kirsten A. Petrie et al.   PLoS One

A unique case of fibrodysplasia ossificans progressiva with anACVR1 mutation, G356D, other than the common mutation (R206H)

(2008) Hirokazu Furuya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fibrodysplasia ossificans progressiva

(2008) Frederick S. Kaplan et al.   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor

(2008) Toru Fukuda et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

(2008) Renata Bocciardi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

(2008) Frederick S. Kaplan et al.   HUMAN MUTATION

Proximal Tibial Osteochondromas in Patients with Fibrodysplasia Ossificans Progressiva

(2008) Gregory K. Deirmengian et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME