Fig. 1From: Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage familyFamily tree of the proband. represents proband, represents male, represents female, represents intermarriage, represents fraternal twin, represents dead; represents patients with renal phenotype. Proband harbors homozygosis mutation of p. E697X,37 and p. F691 L in NPHP1 gene. Parents of the proband are first cousins and they harbor the two heterozygous mutationsBack to article page