1. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Issue 3 (13th October 2016) Authors: Balasubramanian, M; Lord, H; Levesque, S; Guturu, H; Thuriot, F; Sillon, G; Wenger, A M; Sureka, D L; Lester, T; Johnson, D S; Bowen, J; Calhoun, A R; Viskochil, D H; Bejerano, G; Bernstein, J A; Chitayat, D Journal: Journal of medical genetics Issue: Volume 54:Issue 3(2017) Page Start: 157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. P127 Lung disease in systemic JIA: an emerging problem linked with young age and anti-IL-1/IL-6. (March 2019) Authors: Chen, G; Saper, V; Deutsch, G; Guillerman, RP; Jagadeesh, K; Schulert, G; Canna, S; Lu, Y; Birgmeier, J; Leung, A; Grom, A; Bejerano, G; Davis, M; Khatri, P; Mellins, E Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 1 Page Start: A57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗