Article

Identification of Novel COL4A5 Variants and Prenatal Diagnosis in Three Large Families

2025-01-20

Abstract excerpt

<title>Abstract</title> <p>Alport syndrome (AS) is the second-most frequent monogenic kidney disease and 85% of cases are caused by mutations in the genes of the α5 chains of collagen type IV (<italic>COL4A5</italic>). The early diagnosis and treatment are essential for the prognosis of AS. The clinical phenotypes of AS are very variable, which is challenging to diagnose. Genetic diagnosis is sensitive and accura...

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Literature Corpus work: 4ae33233-dc05-5bad-a95f-5a0ee36197f9
DOI: 10.21203/rs.3.rs-5839455/v1

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