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COL4A1- and COL4A2-Related Disorders—Clinical Features, Diagnostic Guidelines, and Management

<b>Background:</b> The COL4A1 and COL4A2 genes encode the alpha-1 and alpha-2 chains of type IV collagen, which are fundamental components of the basement membrane, playing key roles in both structural support and cellular regulation [...]

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Principais autores: Diana Tambala, Rachel Vassar, John Snow, Simona Balestrini, Anna Bersano, Stéphanie Guey, Eleonora Bonaventura, Sabrina Signorini, Stefano Sartori, Enrico Bertini, Davide Tonduti, Cecilia Parazzini, Marina Macchiaiolo, Maria Federica Pelizza, Anna Pichiecchio, Laura Massella, Thibault Coste, Simona Orcesi, Davide Politano, Giacomo Bacci, Elisa Marziali, Helene Dollfus, Anna Mandelli, Marcello Chinali, Emmanuelle Plaisier, Paolo Simioni, Raffaella Colombati, Renzo Guerrini, Elisabeth Tournier-Lasserve, Douglas B. Gould, Patricia L. Musolino
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2025-07-01
Serier:Proceedings
Fag:
COL4A1
COL4A2
Guidelines
Delphi
genotype–phenotype
Online adgang:https://www.mdpi.com/2504-3900/120/1/12
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