Novel asymptomatic CNS findings in patients withACVR1/ALK2mutations causing fibrodysplasia ossificans progressiva-Reference-Cited by-同舟云学术

Novel asymptomatic CNS findings in patients withACVR1/ALK2mutations causing fibrodysplasia ossificans progressiva

Published:2016-08-26 Issue:12 Volume:53 Page:859-864
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Severino Mariasavina,Bertamino Marta,Tortora Domenico^ORCID,Morana Giovanni,Uccella Sara,Bocciardi Renata,Ravazzolo Roberto,Rossi Andrea,Di Rocco Maja

Funder

Ministero della Salute

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. Fibrodysplasia ossificans progressiva: clinical and genetic aspects;Pignolo;Orphanet J Rare Dis,2011

2. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic Fibrodysplasia ossificans progressiva;Shore;Nat Genet,2006

3. ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A;Hatsell;Sci Transl Med,2015

4. Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome;Schaffer;Spine,2005

5. CNS demyelination in fibrodysplasia ossificans progressive;Kan;J Neurol,2012

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3. Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation;American Journal of Neuroradiology;2023-02-23

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