The diverse pleiotropic effects of spliceosomal protein <scp>PUF60</scp> : A case series of Verheij syndrome-Reference-Cited by-同舟云学术

The diverse pleiotropic effects of spliceosomal protein PUF60 : A case series of Verheij syndrome

Published:2022-08-17 Issue:12 Volume:188 Page:3432-3447
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Fennell Andrew Paul¹²³^ORCID,Baxter Anne Elizabeth⁴,Berkovic Samuel Frank⁵^ORCID,Ellaway Carolyn Jane⁶⁷⁸⁹^ORCID,Forwood Caitlin⁹^ORCID,Hildebrand Michael Stephen⁵¹⁰^ORCID,Kumble Smitha¹¹^ORCID,McKeown Colina¹²,Mowat David⁹^ORCID,Poke Gemma¹²^ORCID,Rajagopalan Sulekha¹³^ORCID,Regan Brigid M.⁵,Scheffer Ingrid Eileen⁵¹⁰¹⁴¹⁵^ORCID,Stark Zornitza¹¹¹⁴^ORCID,Stutterd Chloe Alice¹¹^ORCID,Tan Tiong Yang¹¹¹⁴^ORCID,Wilkins Ella Jane¹¹,Yeung Alison¹¹¹⁴^ORCID,Hunter Matthew Frank¹³^ORCID

Affiliation:

1. Monash Genetics Monash Health Melbourne Australia

2. Clinical Genetics Service Austin Health Melbourne Australia

3. Department of Paediatrics Monash University Melbourne Australia

4. Hunter Genetics Hunter New England Health Service Newcastle Australia

5. Epilepsy Research Centre, Department of Medicine The University of Melbourne Heidelberg Australia

6. Paediatrics North Sydney Australia

7. Genetic Metabolic Disorders Service The Sydney Children's Hospital Network Sydney Australia

8. Faculty of Medicine and Health The University of Sydney Sydney Australia

9. Centre for Clinical Genetics Sydney Children's Hospital Randwick Sydney Australia

10. Murdoch Children's Research Institute Melbourne Australia

11. Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia

12. Genetic Health Service New Zealand Wellington Hospital Wellington New Zealand

13. Department of Clinical Genetics Liverpool Hospital Sydney Australia

14. Department of Paediatrics The University of Melbourne Melbourne Australia

15. The Florey Institute of Neuroscience and Mental Health Melbourne Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62950

Reference39 articles.

1. PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome

2. Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome

3. Spliceosomopathies and neurocristopathies: Two sides of the same coin?

4. Human Craniofacial Spliceosomopathies

5. Prevalence of pectus excavatum in an adult population-based cohort estimated from radiographic indices of chest wall shape

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1. Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus;Gene;2024-03

2. PUF60 loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome;American Journal of Medical Genetics Part A;2024-01-31

3. Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature;European Journal of Human Genetics;2024-01-25