Article
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.
Human mutation - 1 Dec 2011
Alatzoglou Kyriaki S, Andoniadou Cynthia L, Kelberman Daniel, Buchanan Charles R, Crolla John, Arriazu Maria Cristina, Roubicek Martin, Moncet Daniel, Martinez-Barbera Juan P, Dattani Mehul T
Abstract excerpt
SOX2 is an early developmental transcription factor and marker of stem cells that has recently been implicated in the development of the pituitary gland. Heterozygous SOX2 mutations have been described in patients with hypopituitarism and severe ocular abnormalities. In the majority of published cases, the pituitary gland is either small or normal in size. Here, we report two unrelated patients with SOX2...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.