| Title: |
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome |
| Authors: |
Pacault, MathildeAff1; Vincent, MarieAff1, cor1; Besnard, ThomasAff1; Kannengiesser, CarolineAff2; Bénéteau, ClaireAff1; Barbarot, SébastienAff3; Latypova, XéniaAff1; Belabbas, KhaldiaAff4; Lamazière, AntoninAff5; Winer, NorbertAff6; Joubert, MadeleineAff7; Bézieau, StéphaneAff1; Isidor, BertrandAff1; Mercier, SandraAff1; Nizon, MathildeAff1; Leclerc-Mercier, StéphanieAff8; Hadj-Rabia, SmailAff8; Dufernez, FabienneAff9 |
| Source: |
European Journal of Human Genetics. 26(12):1784-1790 |
| Database: |
Springer Nature Journals |