Biallelic variants in GLE1 with survival beyond neonatal period-Reference-Cited by-同舟云学术

Biallelic variants in GLE1 with survival beyond neonatal period

Published:2020-09-20 Issue:6 Volume:98 Page:622-625
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Yates T. Michael¹^ORCID,Campeau Philippe M.²^ORCID,Ghoumid Jamal³,Kibaek Maria⁴,Larsen Martin J.⁵,Smol Thomas⁶,Albaba Sami⁷,Hertz Jens Michael⁵^ORCID,Balasubramanian Meena⁸⁹^ORCID

Affiliation:

1. The University of Edinburgh MRC Human Genetics Unit Edinburgh UK

2. Department of Pediatrics, Sainte‐Justine Hospital University of Montreal Montréal Canada

3. CHU Lille, Clinique de Génétique Guy Fontaine Lille France

4. Department of Pediatrics Odense University Hospital Odense Denmark

5. Department of Clinical Genetics Odense University Hospital Odense Denmark

6. CHU Lille, Institut de Génétique Médicale Lille France

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

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

9. Academic Unit of Child Health, Department of Oncology & Metabolism University of Sheffield Sheffield UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13841

Reference5 articles.

1. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

2. Expansion of the GLE1 ‐associated arthrogryposis multiplex congenita clinical spectrum

3. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

4. The importance of managing the patient and not the gene: expanded phenotype of GLE1‐associated arthrogryposis;Tan QKG;Cold Spring Harb Mol Case Stud,2017

5. Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy

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