A further gene recently likely associated with HI is the developmental transcription factor, forkhead box A2, FOXA2, in which a de novo heterozygous mutation was found by WES in a child with HI, hypopituitarism, liver, lung and gastrointestinal malformations, choroidal coloboma and dysmorphisms (102). The gene discussed is FOXA2; the disease is hypopituitarism.