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ey0015.2-4 | Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism | ESPEYB15

2.4 Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities

D Giri , ML Vignola , A Gualtieri , V Scagliotti , P McNamara , M Peak , M Didi , C Gaston-Massuet , S Senniappan

To read the full abstract: Hum Mol Genet. 2017 Nov 15;26(22):4315-4326These two papers describe the association of heterozygous FOXA2 mutations with hypopituitarism and hyperinsulinism. The forkhead/winged helix transcription factor Foxa2 is a major upstream regulator of Pdx1, a transcription factor necessary for pancreatic development and also plays a role in the developmental biology of the pituit...

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ESPE Yearbook of Paediatric Endocrinology

2.4 Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities

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