Fig. 3From: A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case reportSequence analysis. The three patients carry a homozygous mutation (p.Thr304AsnfsX6) causing frameshift and predicting a premature protein truncation (a : affected daughter or patient 2, b: affected son or patient 1). Parents are heterozygous for the mutation (c, d)Back to article page