1. Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. Issue 2 (April 1984) Authors: Richieri-Costa, A; Garcia da Silva, S M; Frota-Pessoa, O Journal: Journal of medical genetics Issue: Volume 21:Issue 2(1984) Page Start: 103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. Issue 8 (August 1998) Authors: Passos-Bueno, M R; Richieri-Costa, A; Sertié, A L; Kneppers, A Journal: Journal of medical genetics Issue: Volume 35:Issue 8(1998) Page Start: 677 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. TBX22 mutations are a frequent cause of cleft palate. Issue 1 (16th January 2004) Authors: Marçano, A C B; Doudney, K; Braybrook, C; Squires, R; Patton, M A; Lees, M M; Richieri-Costa, A; Lidral, A C; Murray, J C; Moore, G E; Stanier, P Journal: Journal of medical genetics Issue: Volume 41:Issue 1(2004) Page Start: 68 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Tetrasomy 18p: tentative delineation of a syndrome. Issue 2 (April 1983) Authors: Batista, Denise A S; Vianna-Morgante, Angela M; Richieri-Costa, A Journal: Journal of medical genetics Issue: Volume 20:Issue 2(1983) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗