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, Kathryn S., Cundall, Maria, Turton, James, Rizotti, Karine, Mehta, Ameeta, Palmer, Rodger, Wong, Jacqueline, Chong, W. K., Al-Zyoud, Mahmoud, El-Ali, Maryam, Otonkoski, Timo, Martinez-Barbera, Juan-Pedro, Thomas, Paul Q., Robinson, Iain C., Lovell-Badge, Robin, Woodward, Karen J., Dattani, Mehul T.
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2005
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1199372/
https://ncbi.nlm.nih.gov/pubmed/15800844
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