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Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance
2012
PLoS ONE
We identified an amino acid change (p.G92E) in the Bone Morphogenetic Protein antagonist NOGGIN in a 22-month-old boy who presented with a unilateral brachydactyly type B phenotype. Brachydactyly type B is a skeletal malformation that has been associated with increased Bone Morphogenetic Protein pathway activation in other patients. Previously, the amino acid change p.G92E in NOGGIN was described as causing fibrodysplasia ossificans progressiva, a rare genetic disorder characterized by limb
doi:10.1371/journal.pone.0035062
pmid:22529972
pmcid:PMC3329551
fatcat:wa4wvyj3zzfxxcg2jjwr45cfze