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Article

Variable signaling activity by FOP ACVR1 mutations.

Bone - 1 Apr 2018

Haupt Julia, Xu Meiqi, Shore Eileen M

Abstract excerpt

Most patients with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of heterotopic ossification, have the same causative mutation in ACVR1, R206H. However, additional mutations within the ACVR1 BMP type I receptor have been identified in a small number of FOP cases, often in patients with disease of lesser or greater severity than occurs with R206H mutations. Genotype-phenotype correlations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29097342
DOI: 10.1016/j.bone.2017.10.027
PMCID: PMC5866189

Genes

ACVR1

Variants

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