A novel variant of ARPC4-related neurodevelopmental disorder

Am J Med Genet A. 2023 Mar;191(3):893-895. doi: 10.1002/ajmg.a.63082. Epub 2022 Dec 13.

Authors

Yukiko Kuroda¹, Tatsuro Kumaki¹, Yoko Saito¹, Yumi Enomoto², Hisato Suzuki³, Toshiki Takenouchi⁴, Kenjiro Kosaki³, Kenji Kurosawa¹

Affiliations

¹ Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
² Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
³ Center for Medical Genetics, Keio University School of Medicine, Graduate School of Medicine, Tokyo, Japan.
⁴ Department of Pediatrics, Keio University School of Medicine, Graduate School of Medicine, Tokyo, Japan.

PMID: 36513617
DOI: 10.1002/ajmg.a.63082

No abstract available

Publication types

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

MeSH terms

Actins
Humans
Mutation
Neurodevelopmental Disorders* / diagnosis
Neurodevelopmental Disorders* / genetics

Substances

Actins
ARPC4 protein, human