SOX2 haploinsufficiency is associated with slow progressing hypothalamo‐pituitary tumours
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چکیده
منابع مشابه
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours
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...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2011
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.21606