Novel truncating recessive mutations in KLHL7 gene causing Bohring-Opitz like syndrome
- Resource Type
- Journal
- Authors
- Bruel, A.; Bigoni, S.; Kennedy, J.; Whiteford, M.; Buxton, C.; Parmeggiani, G.; Wherlock, M.; Woodward, G.; Greenslade, M.; Williams, M.; St-Onge, J.; Ferlini, A.; Garani, G.; Ballardini, E.; Gilissen, C.; van Bon, B.; Acuna-Hildago, R.; Borhing, A.; Riviere, J.; Brunner, H. G.; Hoischen, A.; Newbury-Ecob, R.; Thauvin-Robinet, C.; Faivre, L.; Thevenon, J.
- Source
- EUROPEAN JOURNAL OF HUMAN GENETICS; OCT 2018, 26 p479-p479, 1p. Supplement: S
- Subject
- Language
- English
- ISSN
- 14765438