Autosomal recessive Alport syndrome caused by a novel COL4A4 compound heterozygous mutation: A case report

Aim null Autosomal dominant inheritance of Alport syndrome (AS) is very rare, and only a few unrelated families have been found with COL4A3 or COL4A4 gene mutations. Therefore, we aimed to explore the COL4A4 gene mutation spectrum in autosomal recessive Alport syndrome (ARAS). null Materials and methods null Blood samples of the proband and his parents were sent to the Institute of Rare Diseases at the West China Hospital of Sichuan University...