ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature-Reference-Cited by-同舟云学术

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

Published:2021-07-31 Issue:12 Volume:185 Page:3740-3753
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kushary Sulagna Tina¹^ORCID,Revah‐Politi Anya¹²^ORCID,Barua Subit²,Ganapathi Mythily²,Accogli Andrea³^ORCID,Aggarwal Vimla²,Brunetti‐Pierri Nicola⁴⁵^ORCID,Cappuccio Gerarda⁴⁵,Capra Valeria³,Fagerberg Christina R.⁶,Gazdagh Gabriella⁷,Guzman Edwin⁸,Hadonou Medard⁹,Harrison Victoria¹⁰,Havelund Kathrine¹¹,Iancu Daniela¹⁰,Kraus Alison⁶,Lippa Natalie C.¹,Mansukhani Mahesh²,McBrian Danielle¹²,McEntagart Meriel¹³,Pacio‐Míguez Marta¹⁴^ORCID,Palomares‐Bralo María¹⁴^ORCID,Pottinger Carrie¹⁵,Ruivenkamp Claudia A. L.¹⁶,Sacco Oliviero³,Santen Gijs W. E.¹⁶,Santos‐Simarro Fernando¹⁴^ORCID,Scala Marcello³^ORCID,Short John⁹,Sørensen Kristina P.¹¹,Woods Christopher G.¹⁷,Anyane Yeboa Kwame⁸^ORCID, ,

Affiliation:

1. Institute for Genomic Medicine Columbia University Irving Medical Center New York New York USA

2. Department of Pathology and Cell Biology Columbia University Irving Medical Center New York New York USA

3. IRCCS 'G. Gaslini' Children's Hospital Genoa Italy

4. Telethon Institute of Genetics and Medicine Pozzuoli Italy

5. Department of Translational Medicine Federico II University of Naples Naples Italy

6. Department of Clinical Genetics Odense University Hospital Odense Denmark

7. West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building Queen Elizabeth University Hospital Glasgow UK

8. Division of Clinical Genetics, Department of Pediatrics Columbia University Irving Medical Center New York New York USA

9. St. George's Genomics Service St. George's University Hospitals NHS FT London UK

10. Wessex Clinical Genetics Service Southampton UK

11. HC Andersen Children's Hospital Odense University Hospital Odense Denmark

12. Department of Neurology Columbia University Irving Medical Center New York New York USA

13. Department of Medical Genetics St. George's University Hospital NHS FT London UK

14. Instituto de Genética Médica y Molecular (INGEMM) Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII Madrid Spain

15. Department of Clinical Genetics All Wales Genomic Medicine Service, Maelor Hospital Wrexham UK

16. Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands

17. Cambridge Institute for Medical Research University of Cambridge, Addenbrooke's Hospital Cambridge UK

Funder

National Center for Advancing Translational Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62445

Reference16 articles.

1. SON Controls Cell-Cycle Progression by Coordinated Regulation of RNA Splicing

2. New Discoveries of Old SON: A Link Between RNA Splicing and Cancer

3. The mutational constraint spectrum quantified from variation in 141,456 humans

4. SON and Its Alternatively Spliced Isoforms Control MLL Complex-Mediated H3K4me3 and Transcription of Leukemia-Associated Genes

5. SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

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