Biallelic variants in <scp> <i>CENPF</i> </scp> causing a phenotype distinct from Strømme syndrome-Reference-Cited by-同舟云学术

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome

Published:2022-03 Issue:1 Volume:190 Page:102-108
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:American J of Med Genetics Pt C

Author:

Cappuccio Gerarda¹²^ORCID,Brillante Simona²,Tammaro Roberta²,Pinelli Michele¹²^ORCID,De Bernardi Margherita Lucia¹,Gensini Maria Grazia¹,Bijlsma Emilia K.³,Koopmann Tamara T.³,Hoffer Mariette J. V.³,McDonald Kimberly⁴,Hendon Laura G.⁴,Douzgou Sofia⁵⁶,Deshpande Charulata⁷,D'Arrigo Stefano⁸,Torella Annalaura²⁹,Nigro Vincenzo²⁹,Franco Brunella¹²¹⁰^ORCID,Brunetti‐Pierri Nicola¹²¹⁰^ORCID

Affiliation:

1. Department of Translational Medicine, Section of Pediatrics Federico II University Naples Italy

2. Telethon Institute of Genetics and Medicine Naples Italy

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

4. Department of Pediatrics University of Mississippi Medical Center Jackson Mississippi USA

5. Department of Medical Genetics Haukeland University Hospital Bergen Norway

6. Division of Evolution, Infection and Genomics, School of Biological Sciences University of Manchester Manchester UK

7. Manchester Centre for Genomic Medicine St Mary's Hospital Manchester UK

8. Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico C. Besta Milan Italy

9. Department of Precision Medicine University of Campania ‘Luigi Vanvitelli’ Naples Italy

10. Scuola Superiore Meridionale School for Advanced Studies Naples Italy

Funder

Fondazione Telethon

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31973

Reference13 articles.

1. Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review

2. The Centrosome in Cells and Organisms

3. Renal involvement and Strømme syndrome

4. CEP290, a gene with many faces: mutation overview and presentation of CEP290base

5. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome;Genes;2023-10-24

2. Primary Cilia Influence Progenitor Function during Cortical Development;Cells;2022-09-16