A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy

ConclusionsBoth the age at the onset and the phenotypic severity of the syndrome in these two brothers were different despite identical genotypes. The younger patients had corneal opacities leading to deteriorating visual acuity. For the first time in this disease, opacities were successfully treated with corneal transplantations.

Source: Molecular Genetics & Genomic Medicine - July 2, 2019 Category: Genetics & Stem Cells Authors: Liisa Kr öger, Tuija Löppönen, Leena Ala‐Kokko, Heikki Kröger, Hanna‐Mari Jauhonen, Kaisa Lehti, Jarmo Jääskeläinen Tags: CLINICAL REPORT Source Type: research