Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity-Reference-Cited by-同舟云学术

Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity

Published:2020-03-25 Issue:6 Volume:182 Page:1466-1472
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Serey‐Gaut Margaux¹^ORCID,Scala Marcello²³^ORCID,Reversade Bruno⁴⁵⁶,Ruaud Lyse⁷⁸,Cabrol Christelle¹,Musacchia Francesco⁹,Torella Annalaura⁹¹⁰,Accogli Andrea²³^ORCID,Escande‐Beillard Nathalie⁴⁶,Langlais Jean¹¹,Piatelli Gianluca³,Consales Alessandro³,Nigro Vincenzo⁹¹⁰,Capra Valeria³,Van Maldergem Lionel¹

Affiliation:

1. Centre de génétique humaineUniversité de Franche Comté Besançon France

2. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child HealthUniversity of Genoa Genoa Italy

3. Department of NeurosurgeryIRCCS Istituto Giannina Gaslini Genoa Italy

4. Institute of Molecular and Cell Biology, A*STAR Singapore Singapore

5. Laboratory of Human Embryology and GeneticsInstitute of Medical Biology, A*STAR Singapore Singapore

6. Medical Genetics DepartmentKoç University School of Medicine Istanbul Turkey

7. Université de Paris Paris France

8. Service de génétique clinique, AP‐HP, Hôpital Robert Debré Paris France

9. Telethon Institute of Genetics and Medicine Naples Italy

10. Department of Precision MedicineUniversity of Campania ‘Luigi Vanvitelli’ Naples Italy

11. Department of Pediatric Orthopedic SurgeryUniversity Hospital, Université de Franche Comté Besançon France