Clinical and genetic characterization of AP4B1 ‐associated SPG47-Reference-Cited by-同舟云学术

Clinical and genetic characterization of AP4B1 ‐associated SPG47

Published:2017-11-28 Issue:2 Volume:176 Page:311-318
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ebrahimi‐Fakhari Darius¹²^ORCID,Cheng Chi³,Dies Kira¹,Diplock Amelia¹,Pier Danielle B.¹⁴,Ryan Conor S.⁵,Lanpher Brendan C.⁶,Hirst Jennifer⁷,Chung Wendy K.⁸,Sahin Mustafa¹,Rosser Elisabeth⁹,Darras Basil¹,Bennett James T.¹⁰^ORCID,

Affiliation:

1. Department of NeurologyBoston Children's HospitalHarvard Medical SchoolBostonMassachusetts

2. Division of General PediatricsBoston Children's HospitalHarvard Medical SchoolBostonMassachusetts

3. Center for Integrative Brain ResearchSeattle Children's Research InstituteSeattleWashington

4. Department of NeurologyMassachusetts General HospitalBostonMassachusetts

5. Department of Child and Adolescent NeurologyMayo ClinicRochesterMinnesota

6. Department of Clinical GenomicsMayo ClinicRochesterMinnesota

7. Cambridge Institute for Medical ResearchUniversity of CambridgeAddenbrooke's HospitalCambridgeUK

8. Department of Pediatrics and MedicineColumbia University Medical CenterNew YorkNew York

9. Department of Clinical GeneticsGreat Ormond Street Hospital for Children NHS Foundation TrustLondonUK

10. Center for Developmental Biology and Regenerative MedicineSeattle Children's Research Institute, and Division of Genetic Medicine, Department of PediatricsUniversity of WashingtonSeattleWashington

Funder

Burroughs Wellcome Fund

Simons Foundation

Wellcome Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38561

Reference21 articles.

1. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome