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Case Report

Fibrodyplasia Ossificans Progressiva (FOP)

Kuldeep Singh* , Kuldeep Singh* , Pratibha Singh** , Daisy Khera***

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Indian Journal of Genetics and Molecular Research 4(1):p 35-37, Jan-Jun 2015. | DOI: DOI: https://dx.doi.org/10.21088/ijgmr.2319.4782.4115.8

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Abstract

 Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition of abnormal ossifications of body tissues. It is an autosomal dominantly inherited condition or can be sporadic. It is a severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth hallmark for the disease. Most of the isolated classic cases of FOP showed heterozygous mutation in the ACVR1 gene on chromosome 2q23 that encodes a bone morphogenetic protein BMP (ALK2).

Keywords: Fibrodysplasia ossificans progressiva; Autosomal;  Heterozygous; Subcutaneous.

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DOI: DOI: https://dx.doi.org/10.21088/ijgmr.2319.4782.4115.8

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