Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated with mental retardation (MR). Additionally, an expansion of a polyalanine tract (by 11 alanines) within the transcription factor SOX3 (Xq27.1) has been reported in patients with growth hormone deficie...

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Main Authors: Woods-Townsend, Kathryn (Author), Cundall, Maria (Author), Turton, James (Author), Rizotti, Karine (Author), Mehta, Ameeta (Author), Palmer, Rodger (Author), Wong, Jacqueline (Author), Chong, W.K (Author), Al-Zyoud, Mahmoud (Author), El-Ali, Maryam (Author), Otonkoski, Timo (Author), Martinez-Barbera (Author), Thomas, Paul Q. (Author), Robinson, Iain C. (Author), Lovell-Badge, Robin (Author), Woodward, Karen J. (Author), Dattani, Mehul T. (Author)
Format: Article
Language:English
Published: 2005-05.
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