Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT.
Woods KS, et al. Among authors: dattani mt.
Am J Hum Genet. 2005 May;76(5):833-49. doi: 10.1086/430134. Epub 2005 Mar 30.
Am J Hum Genet. 2005.
PMID: 15800844
Free PMC article.