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

Ulrich JehnCornelie Müller-HofstedeBarbara HeitplatzVeerle Van MarckStefan ReuterHermann PavenstädtBritta George
Published in: Case reports in nephrology (2022)
This case report highlights the awareness of atypical AS courses and emphasizes the importance of genetic testing in such cases.
Keyphrases
  • case report
  • copy number
  • preterm birth
  • genome wide
  • pregnancy outcomes
  • genome wide identification
  • dna methylation
  • gene expression