Novel truncating variant in <i>KMT2E</i> associated with cerebellar hypoplasia and velopharyngeal dysfunction-Reference-Cited by-同舟云学术

Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Published:2022-02 Issue:2 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Abreu Nicolas J.¹²^ORCID,Siemon Amy E.³,Baylis Adriane L.⁴⁵⁶⁷,Kirschner Richard E.⁴⁵⁶,Pfau Ruthann B.⁵⁸⁹,Ho Mai‐Lan¹⁰¹¹,Hickey Scott E.³⁵,Truxal Kristen V.³⁵

Affiliation:

1. Center for Gene Therapy The Abigail Wexner Research Institute of Nationwide Children’s Hospital Columbus Ohio USA

2. Division of Neurology Nationwide Children’s Hospital Columbus Ohio USA

3. Division of Genetic & Genomic Medicine Nationwide Children’s Hospital Columbus Ohio USA

4. Department of Plastic and Reconstructive Surgery Nationwide Children’s Hospital Columbus Ohio USA

5. Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA

6. Department of Plastic and Reconstructive Surgery The Ohio State University College of Medicine Columbus Ohio USA

7. Department of Speech and Hearing Science The Ohio State UniversityCollege of Arts and Sciences Columbus Ohio USA

8. The Steve and Cindy Rasmussen Institute for Genomic MedicineThe Abigail Wexner Research Institute of Nationwide Children’s Hospital Columbus Ohio USA

9. Department of Pathology The Ohio State University College of Medicine Columbus Ohio USA

10. Department of Radiology Nationwide Children’s Hospital Columbus Ohio USA

11. Department of Radiology The Ohio State University College of Medicine Columbus Ohio USA

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.5277

Reference7 articles.

1. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3. ODLURO syndrome: personal experience and review of the literature

4. Clinical Characteristics and Genotype–Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature

5. Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review