1. Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. Issue 6 (14th April 2018) Authors: Moutton, S.; Bruel, A.‐L.; Assoum, M.; Chevarin, M.; Sarrazin, E.; Goizet, C.; Guerrot, A.‐M.; Charollais, A.; Charles, P.; Heron, D.; Faudet, A.; Houcinat, N.; Vitobello, A.; Tran‐Mau‐Them, F.; Philippe, C.; Duffourd, Y.; Thauvin‐Robinet, C.; Faivre, L. Journal: Clinical genetics Issue: Volume 93:Issue 6(2018) Page Start: 1172 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. Issue 1 (2nd March 2018) Authors: Bruel, A.‐L.; Thevenon, J.; Huet, F.; Jean‐Marcais, N.; Odent, S.; Dubourg, C.; Lehalle, D.; Tran Mau‐Them, F.; Philippe, C.; Moutton, S.; Houcinat, N.; Gay, S.; Guibaud, L.; Duffourd, Y.; Rivière, J.‐B.; Faivre, L.; Thauvin‐Robinet, C. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗