Pedigrees of the families of patients 1 and 2 show that the clinical phenotype co-segregates with compound heterozygous CLDN10 variants. Pedigrees of the.

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Pedigrees of the families of patients 1 and 2 show that the clinical phenotype co-segregates with compound heterozygous CLDN10 variants. Pedigrees of the families of patients 1 and 2 show that the clinical phenotype co-segregates with compound heterozygous CLDN10 variants. Arrows indicate index patients in (A) family 1 (subject II:2 or patient 1) and (B) family 2 (subject II:2 or patient 2). Affected individuals are indicated in black. The specific CLDN10 sequence variants found in the index patients and their family members and the predicted effects on protein level are depicted. Ernie M.H.F. Bongers et al. JASN 2017;28:3118-3128 ©2017 by American Society of Nephrology