Figure 4.

Brain, thyroid and lung involvement in patients with and without NKX2-1 mutations. Venn diagrams demonstrating that the triad of symptoms is enriched in mutation-positive patients. (A) Symptoms in patients with NKX2-1 deficiency (27/101). (B) Symptoms in patients without NKX2-1 deficiency (74/101). Two further Venn diagrams, one focusing on the phenotype of 18 family members and another one including also the 5 index patients of our previous study,⁸ are given in online supplementary figure S3. Two further Venn diagrams demonstrating that symptom involvement is identical in index cases (n=32, including also the five index patients of our previous study⁸ to that of family members (n=18), except three patients with isolated asthma phenotype) are given in online supplementary figure S3.