Expansion of the clinical and molecular spectrum of an XPD ‐related disorder linked to biallelic mutations in ERCC2 gene-Reference-Cited by-同舟云学术

Expansion of the clinical and molecular spectrum of an XPD ‐related disorder linked to biallelic mutations in ERCC2 gene

Published:2021-04-05 Issue:6 Volume:99 Page:842-848
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Agolini Emanuele¹^ORCID,Botta Elena²,Lodi Mariachiara³,Digilio Maria Cristina⁴^ORCID,Rinelli Martina¹,Bellacchio Emanuele⁴,Alesi Viola¹,Nardo Tiziana²,Zambruno Giovanna⁴,Orioli Donata²,Alessi Iside³,Boccuto Luigi⁵⁶^ORCID,Rossi Sabrina⁷,Carai Andrea⁸,Colafati Giovanna Stefania⁹,Cacchione Antonella³,Dallapiccola Bruno⁴,Novelli Antonio¹,Mastronuzzi Angela³

Affiliation:

1. Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

2. Institute of Molecular Genetics LL Cavalli Sforza‐CNR Pavia Italy

3. Department of Hematology/Oncology, Gene and Cell Therapy Bambino Gesù Children's Hospital, IRCSS Rome Italy

4. Genetics and Rare Diseases Research Division Bambino Gesù Children's Hospital, IRCSS Rome Italy

5. College of Behavioral, Social and Health Sciences, Clemson University Clemson South Carolina USA

6. Greenwood Genetic Center Greenwood South Carolina USA

7. Pathology Department Bambino Gesù Children's Hospital, IRCCS Rome Italy

8. Neurosurgery Unit, Department of Neurosciences and Neurorehabilitation Bambino Gesù Children's Hospital, IRCSS Rome Italy

9. Neuroradiology Unit, Department of Imaging Bambino Gesù Children's Hospital, IRCSS Rome Italy

Funder

Associazione Italiana per la Ricerca sul Cancro

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13957

Reference9 articles.

1. Controlling the efficiency of excision repair

2. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases

3. Heterogeneity and overlaps in nucleotide excision repair disorders

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