Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities

Pediatric Neurology 2026 Open access

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Authors: Guido I. Guberman, Marcello Scala, Pasquale Striano, Federico Zara, Mariasavina Severino, Emanuela Argilli, Elliott H. Sherr, Kenneth Alexis Myers
DOI: 10.1016/j.pediatrneurol.2025.12.022
Cited by: 0
References: 13

Fields of Study & Subjects

Cell Adhesion Molecules Research Skin and Cellular Biology Research Connective tissue disorders research

Publication details

Journal / source
Pediatric Neurology
Publisher
Elsevier BV
Volume
176
Pages
64–67
Publication date
2 January 2026
Language
EN