A Novel Homozygous Mutation in the COL4A4 Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature

BACKGROUND: Alport syndrome results from a hereditary defect of collagen IV synthesis. This causes progressive glomerular disease, ocular abnormalities, and inner ear impairment. Case Presentation. Herein, we present a case of Alport syndrome in a 28-year-old woman caused by a novel mutation (Gly143...

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Detalles Bibliográficos
Autores principales: Jehn, Ulrich, Müller-Hofstede, Cornelie, Heitplatz, Barbara, Van Marck, Veerle, Reuter, Stefan, Pavenstädt, Hermann, George, Britta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752291/
https://www.ncbi.nlm.nih.gov/pubmed/35028164
http://dx.doi.org/10.1155/2022/5243137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752291/
https://www.ncbi.nlm.nih.gov/pubmed/35028164
http://dx.doi.org/10.1155/2022/5243137

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