A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene-Reference-Cited by-同舟云学术

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A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene

Published:2021-08-04 Issue:10 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Cappato Serena¹,Traberg Rasa²,Gintautiene Jolita³,Zara Federico¹⁴,Bocciardi Renata¹⁴^ORCID

Affiliation:

1. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Sciences (DINOGMI) University of Genoa Genoa Italy

2. Department of Genetics and Molecular Medicine Medical Academy Lithuanian University of Health Sciences Kaunas Lithuania

3. Department of Paediatric Surgery Medical Academy Lithuanian University of Health Sciences Kaunas Lithuania

4. UOC Genetica Medica IRCCS Istituto Giannina Gaslini Genoa Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1774

Reference26 articles.

1. Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases

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

3. Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations

4. The Horizon of a Therapy for Rare Genetic Diseases: A “Druggable” Future for Fibrodysplasia Ossificans Progressiva

5. Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report;Journal of Medical Case Reports;2024-04-26

2. How Activin A Became a Therapeutic Target in Fibrodysplasia Ossificans Progressiva;Biomolecules;2024-01-12

3. Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes;Case Reports in Genetics;2022-08-25

4. Recent progress in drug development for fibrodysplasia ossificans progressiva;Molecular and Cellular Biochemistry;2022-05-10

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