Prenatal diagnosis of congenital nephrotic syndrome of the Finnish type in a Chinese family.

Abstract excerpt

OBJECTIVE: To explore the genetic bias in a Chinese family suspected of having congenital nephrotic syndrome of the Finnish type (CNF). CASE REPORT: We developed a prenatal genetic diagnosis in a Chinese family with CNF. A single heterozygous mutation (c.3213delG) was found in the foetus IId and we presumed that it was an asymptomatic carrier of the normal phenotype. Additionally, two compound heterozygous...

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