Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function-Reference-Cited by-同舟云学术

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Published:2018-12-06 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rehman Atteeq U.¹,Najafi Maryam²,Kambouris Marios³,Gazali Lihadh Al⁴^ORCID,Makrythanasis Periklis⁵⁶,Rad Abolfazl²⁷,Maroofian Reza⁸,Rajab Anna⁹,Stark Zornitza¹⁰¹¹¹²,Hunter Jill V.¹³,Bakey Zeineb²¹⁴,Tokita Mari J.¹,He Weimin¹⁵,Vetrini Francesco¹⁵,Petersen Andrea¹,Santoni Federico A.⁵,Hamamy Hanan⁵,Wu Kaman²,Jasmi Fatma Al⁴¹⁶,Helmstädter Martin¹⁷,Arnold Sebastian J.¹⁸,Xia Fan¹¹⁵,Richmond Christopher¹⁰,Liu Pengfei¹¹⁵,Karimiani Ehsan Ghayoor¹⁹,Madani GholamReza Karami²⁰,Lunke Sebastian¹⁰¹¹¹²,El‐Shanti Hatem²¹²²,Eng Christine M.¹¹⁵,Antonarakis Stylianos E.⁵,Hertecant Jozef⁴¹⁶,Walkiewicz Magdalena¹¹⁵²³,Yang Yaping¹¹⁵,Schmidts Miriam²¹⁴^ORCID

Affiliation:

1. Department of Molecular and Human GeneticsBaylor College of Medicine Houston TX USA

2. Genome Research DivisionHuman Genetics departmentRadboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences Nijmegen The Netherlands

3. Division of GeneticsDepartment of Pathology and Laboratory MedicineSidra Medicine Doha Qatar

4. Department of PediatricsCollege of Medicine and Health SciencesUnited Arab Emirates University Al‐Ain United Arab Emirates

5. Service of EndocrinologyDiabetology and MetabolismLausanne University Hospital Lausanne Switzerland

6. Biomedical Research Institute of the Academy of Athens Athens Greece

7. Cellular and Molecular Research CenterSabzevar University of Medical Sciences Sabzevar Iran

8. Genetics Research CentreMolecular and Clinical Sciences Institute, St George'sUniversity of London London UK

9. VPS Healthcare Muscat Sultanate of Oman

10. Victorian Clinical Genetics ServicesMurdoch Children's Research Institute Melbourne Australia

11. University of Melbourne Melbourne Australia

12. Australian Genomics Health Alliance Melbourne Australia

13. Texas Children's Hospital Houston Texas USA

14. Center for Pediatrics and Adolescent MedicineUniversity Hospital FreiburgFreiburg University Faculty of Medicine Freiburg Germany

15. Baylor Genetics LaboratoriesBaylor College of Medicine Houston TX USA

16. Department of PediatricsTawam Hospital Al‐Ain United Arab Emirates

17. Renal DivisionDepartment of MedicineUniversity Hospital FreiburgFreiburg University Faculty of Medicine Freiburg Germany

18. Institute of Experimental and Clinical Pharmacology and Toxicology IIFaculty of MedicineUniversity of Freiburg, FreiburgGermany and BIOSS Centre of Biological Signalling StudiesAlbert‐Ludwigs‐University Freiburg Germany

19. Molecular and Clinical Sciences InstituteSt. George's, University of London, LondonUK and Innovative medical research centerMashhad branchIslamic Azad University Mashhad Iran

20. Department of BiologyDamghan BranchIslamic Azad University Cheshmeh‐Ali Boulevard, Sa'dei Square Damghan Iran

21. Department of PediatricsSchool of Medicine University of Jordan Amman Jordan

22. Carver College of MedicineUniversity of Iowa Iowa City IA USA

23. The National Institute of Allergy and Infectious DiseaseNational Institutes of Health Bethesda MD USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23694

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