MON-493 A Unique Case of Severe Osteogenesis Imperfecta Due to a Novel Heterozygous Mutation in COL1A1 Gene with Overlapping Hypophosphatasia Phenotype
Abstract:Background:
Osteogenesis imperfecta (OI) is a rare heterogeneous bone fragility disease due to collagen defect most often caused by autosomal dominant (AD)
COL1A1
or
COL1A2
gene mutations. Severe forms of Hypophosphatasia (HPP) may phenotypically resemble OI, is a distinct disorder of hypomineralization caused by the mutations in the tissue-nonspecific alkaline phosphatase (
ALPL
) gene. Here in, we present the first case of a neon… Show more
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