Work

A De Novo Variant in NALCN Associated With Arthrogryposis and Neonatal Respiratory Failure: A Case Report

Year: 2026

Type: article

Study design: Case Report

Source: Pediatric Pulmonology

Authors: Coralie Eyraud, Julie Cassibba, Eglantine Hullo, Anne Coffre, Ihab Atallah, Guillaume Mortamet, Veronique Abadie, John Rendu, Anthony Maino, Klaus Dieterich

Institutions: Centre Hospitalier Universitaire de Grenoble, Université Grenoble Alpes, Inserm, Institut polytechnique de Grenoble, Centre National de la Recherche Scientifique, GIPSA-Lab, Hôpital Necker-Enfants Malades, Grenoble Institute of Neurosciences, Institut pour l'avancée des biosciences

Language: English

Topic: Ion channel regulation and function

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7138848142

FWCI:

Cites: 5

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