Expanding the phenotype of <scp> <i>HNRNPU</i> </scp> ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature-Reference-Cited by-同舟云学术

Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature

Published:2022-02-09 Issue:5 Volume:188 Page:1497-1514
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:

Taylor James¹^ORCID,Spiller Michael²,Ranguin Kara³,Vitobello Antonio⁴,Philippe Christophe⁴⁵,Bruel Ange‐Line⁴⁵^ORCID,Cappuccio Gerarda⁶^ORCID,Brunetti‐Pierri Nicola⁶⁷^ORCID,Willems Marjolaine⁸^ORCID,Isidor Bertrand⁹,Park Kristen¹⁰,Balasubramanian Meena¹¹¹²^ORCID

Affiliation:

1. Medical School University of Sheffield Sheffield UK

2. Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK

3. Department of Genetics Reference Centre for Rare Diseases and Developmental Anomalies Caen France

4. Inserm, UMR1231, Equipe GAD, Bâtiment B3 Université de Bourgogne Franche Comté Dijon Cedex France

5. Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares Dijon France

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

7. Telethon Institute of Genetics and Medicine Pozzuoli Italy

8. Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI‐RARE, Groupe DI, Inserm U1298, INM Montpellier University, Centre Hospitalier Universitaire de Montpellier Montpellier France

9. CHU de Nantes Service de Génétique Médicale Nantes France

10. Department of Paediatrics and Neurology University of Colorado School of Medicine Aurora Colorado USA

11. Department of Oncology & Metabolism University of Sheffield Sheffield UK

12. Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62677

Reference20 articles.

1. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

2. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

3. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene

4. Functions of heterogeneous nuclear ribonucleoproteins in stem cell potency and differentiation;Chen Q.;BioMed Research International,2013

5. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

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