Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature-Reference-Cited by-同舟云学术

Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature

Published:2021-03-10 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cuddapah Vishnu Anand¹^ORCID,Dubbs Holly A.¹²³,Adang Laura¹^ORCID,Kugler Steven L.¹,McCormick Elizabeth M.⁴,Zolkipli‐Cunningham Zarazuela⁴⁵,Ortiz‐González Xilma R.¹²³,McCormack Shana⁶,Zackai Elaine⁵⁷,Licht Daniel J.¹,Falk Marni J.⁴⁵,Marsh Eric D.¹²³

Affiliation:

1. Division of Neurology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Departments of Neurology and Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

3. The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. Departments of Pediatrics Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

6. Division of Endocrinology and Diabetes Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

7. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62156

Reference28 articles.

1. ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression

2. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome