Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

Published:2018-02-20 Issue:4 Volume:176 Page:862-876
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Menke Leonie A.¹^ORCID,Gardeitchik Thatjana²,Hammond Peter³,Heimdal Ketil R.⁴,Houge Gunnar⁵,Hufnagel Sophia B.⁶,Ji Jianling⁷^ORCID,Johansson Stefan⁵⁸,Kant Sarina G.⁹,Kinning Esther¹⁰,Leon Eyby L.⁶,Newbury‐Ecob Ruth¹¹,Paolacci Stefano¹²^ORCID,Pfundt Rolph²,Ragge Nicola K.¹³,Rinne Tuula²,Ruivenkamp Claudia⁹,Saitta Sulagna C.⁷,Sun Yu¹⁴,Tartaglia Marco¹⁵,Terhal Paulien A.¹⁶^ORCID,van Essen Anthony J.¹⁷,Vigeland Magnus D.⁴,Xiao Bing¹⁴^ORCID,Hennekam Raoul C.¹,

Affiliation:

1. Department of PediatricsAcademic Medical CenterAmsterdamThe Netherlands

2. Department of Human GeneticsRadboud University Medical CenterNijmegenThe Netherlands

3. Big Data Institute and Nuffield Department of Obstetrics and GynaecologyUniversity of OxfordOxfordUnited Kingdom

4. Department of Medical geneticsOslo University HospitalOsloNorway

5. Center for medical genetics and molecular medicineHaukeland University HospitalBergenNorway

6. Division of Genetics and MetabolismChildren's National Health SystemWashingtonDistrict Of Columbia

7. Division of Genomic MedicineDepartment of PathologyChildren's Hospital Los Angeles and Keck USC School of MedicineLos AngelesCalifornia

8. K.G. Jebsen Centre for Neuropsychiatric DisordersThe Department of Clinical ScienceUniversity of BergenBergenNorway

9. Department of Clinical GeneticsLeiden University Medical CenterLeidenThe Netherlands

10. West of Scotland Genetics ServiceQueen Elizabeth University HospitalsGlasgow

11. Department of Clinical GeneticsUniversity Hospitals BristolBristol

12. Department of Experimental MedicineSapienzaUniversity of Rome RomeItaly

13. Birmingham Women's Hospital, BirminghamUnited Kingdom

14. Department of Pediatric Endocrinology/GeneticsXinhua HospitalShanghai Jiao Tong University School of MedicineShanghai Institute for Pediatric ResearchShanghaiChina

15. Genetics and Rare Diseases Research DivisionOspedale Pediatrico Bambino GesùRomeItaly

16. Department of GeneticsWilhelmina Children's HospitalUtrechtThe Netherlands

17. University of GroningenUniversity Medical Center GroningenDepartment of GeneticsGroningenThe Netherlands

Funder

Helse Vest

Ministry of Health

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link