Figure 1. . Phenotypic spectrum of NKX2-1-related disorders.

Figure 1.

Phenotypic spectrum of NKX2-1-related disorders. NKX2-1-related disorders may manifest as abnormalities in a single organ system or as any combination of brain, thyroid, and lung involvement. "Brain-lung-thyroid syndrome" refers to involvement of all three organ systems. Other associated features increasingly recognized in individuals with NKX2-1-related disorders are listed outside the rings. Note: Structural cardiac anomalies have also been reported (see Clinical Description).

Reprinted from Peall & Kurian [2015]

From: NKX2-1-Related Disorders

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