Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

This report describes a mild form of OD and expands the phenotype related to FGFR1 mutations. These findings emphasize the need to consider FGFR1 variants in the case of multiple non-ossifying bone lesions associated with dental eruption anomalies.
PMID: 31319224 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - July 14, 2019 Category: Genetics & Stem Cells Authors: Marzin P, Baujat G, Gensburger D, Huber C, Bole C, Panuel M, Finidori G, De la Dure M, Cormier-Daire V Tags: Eur J Med Genet Source Type: research