Whole exome sequencing reveals concurrent mutations accounting for a combined phenotype of karyomegalic interstitial nephritis and an autosomal recessive polycystic kidney disease in an Omani child: A case report

Intisar Al Alawi, Maryam R. Al Shehhi, Mohammed S Al Riyami, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi,John A. Sayer

Oman Medical Journal(2023)

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关键词
karyomegalic interstitial nephritis,omani child,mutations
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