A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation

Am J Med Genet A. 2022 Feb;188(2):668-671. doi: 10.1002/ajmg.a.62549. Epub 2021 Oct 31.

Authors

Alexandre M White-Brown¹, Gabrielle Lemire¹, Yoko A Ito¹, Olivia Thornburg², Jennifer M Bain², David A Dyment¹

Affiliations

¹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
² Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, New York City, USA.

PMID: 34719854
DOI: 10.1002/ajmg.a.62549

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Female
Heterogeneous-Nuclear Ribonucleoprotein Group F-H
Humans
Mothers*
Pedigree
X Chromosome Inactivation* / genetics

Substances

HNRNPH2 protein, human
Heterogeneous-Nuclear Ribonucleoprotein Group F-H

Grants and funding

CIHR/Canada