Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.
about
Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish.
P2860
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.
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Multi-system involvement in a ...... 8G): A report of two patients.
@en
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva
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type
label
Multi-system involvement in a ...... 8G): A report of two patients.
@en
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva
@nl
prefLabel
Multi-system involvement in a ...... 8G): A report of two patients.
@en
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva
@nl
P2093
P2860
P356
P1476
Multi-system involvement in a ...... 8G): A report of two patients.
@en
P2093
Berta Lopez
Eileen M Shore
Frederick S Kaplan
Inmaculada Calvo
Jay C Groppe
Joyce A Kobori
Monica Rosello
Robert J Pignolo
P2860
P304
P356
10.1002/AJMG.A.37205
P407
P577
2015-06-11T00:00:00Z