Work

RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery–Dreifuss Muscular Dystrophy

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Clinical Neuromuscular Disease

DOI: 10.1097/cnd.0000000000000518

Authors: Chinmayee B. Nagaraj, Cuixia Tian, Hani Kushlaf

Institutions: Cincinnati Children's Hospital Medical Center, University of Cincinnati

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4407954284

FWCI: 0.261

Cites: 7

Cited by: 1

Related to: 10