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Journals and Conferences
Mutations in the NOG gene give rise to a wide range of clinical phenotypes. Noggin, the protein encoded by this gene is a secreted modulator of multiple pathways involved in both bone and joint development. Proximal symphalangism is commonly observed in patients bearing mutations in this gene, however secondary symptomes are often found including typical… (More)
The cover image, by Wim Van Hul et al., is based on the Original Article Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss, DOI: 10.1002/ajmg.a.37626.