Work

Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2024-110604

Authors: Yukiko Kuroda, Koki Nagai, Yasuhiro Kawai, Takuya Naruto, Harutaka Saijou, Shotaro Morikawa, Tomohide Goto, Mutsumi Sato, Kenji Kurosawa

Institutions: Kanagawa Children's Medical Center, Odawara Municipal Hospital

Language: English

Topic: RNA Research and Splicing

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science

Awards: G4848157111, The elucidation of genetic disorders due to 5-UTR variant

OpenAlex ID: W4410711866

FWCI: 1.567

Cites: 8

Cited by: 6

Related to: 10