Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report

We describe the case of a 44-year-old male patient with a longstanding history of microhematuria and mildly impaired kidney function (CKD G2A1). The family history disclosed three females who also had microhematuria. Genetic testing by whole exome sequencing revealed two novel variants in COL4A4 (NM...

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Detalles Bibliográficos
Autores principales: Ponleitner, Markus, Allmer, Daniela Maria, Hecking, Manfred, Gatterer, Constantin, Graf, Senta, Smogavec, Mateja, Laccone, Franco, Rommer, Paulus Stefan, Sunder-Plassmann, Gere
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267447/
https://www.ncbi.nlm.nih.gov/pubmed/37323669
http://dx.doi.org/10.3389/fgene.2023.1211858

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267447/
https://www.ncbi.nlm.nih.gov/pubmed/37323669
http://dx.doi.org/10.3389/fgene.2023.1211858

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