COL4A1- and COL4A2-Related Disorders—Clinical Features, Diagnostic Guidelines, and Management
Authors:
- Diana TambalaDTDiana Tambala
- Rachel VassarRVRachel Vassar
- John SnowJSJohn Snow
- Simona BalestriniSBSimona Balestrini
- Anna BersanoAnna Bersano
- Stéphanie GueySGStéphanie Guey
- Eleonora BonaventuraEBEleonora Bonaventura
- Sabrina SignoriniSSSabrina Signorini
- Stefano SartoriSSStefano Sartori
- Enrico BertiniEBEnrico Bertini
- Davide TondutiDTDavide Tonduti
- Cecilia ParazziniCPCecilia Parazzini
Open Access
- 28 July 2025
- conference paper
- Published by MDPI AG in Proceedings
- Vol. 120 (1) , 12
Abstract
Background: 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 regulationKeywords
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