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Article

Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1G328E variant.

American journal of medical genetics. Part A - 1 Aug 2021

Martín-García Diana, Towler O Will, Xu Meiqi, Alfonso-Hernández Osmany, Oliveira Paula R, Alonso-Clavo Marleny, Shore Eileen M, Kaplan Frederick S

Abstract excerpt

Little is known about FOP in Africa and few cases of nonclassic fibrodysplasia ossificans progressiva (FOP) have been reported on the continent. Here we report a three-year-old girl from Angola with a nonclassic FOP clinical presentation that is characterized by complex malformations of the toes and fingers, reduction defects of the digits, absence of nails, progressive heterotopic ossification, and a confirmed...

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Activin Receptors, Type I
Amino Acid Substitution
Angola
Child, Preschool
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myositis Ossificans

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PMID: 33973349
DOI: 10.1002/ajmg.a.62253

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