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ea0023oc4.2 | Oral Communications 4 | BSPED2009

First report of a de novo heterozygous SOX2 deletion associated with a large hypothalamo-pituitary tumour gives further insights into the role of SOX2 in pituitary development.

Alatzoglou Kyriaki S , Arriazu Maria Cristina , Crolla John , Martinez-Barbera Juan Pedro , Roubicek Martin , Dattani Mehul T

Background: SOX2 is a member of the SOX family of transcription factors (SRY-related high-mobility group (HMG) box). Heterozygous, de novo, loss-of-function mutations were initially reported in patients with bilateral anophthalmia/microphthalmia, developmental delay, male genital tract abnormalities, oesophageal atresia and sensorineural hearing loss. We have recently reported a number of SOX2 mutations in patients with anterior pituitary hypoplasia and hy...

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ea0021p220 | Endocrine tumours and neoplasia | SFEBES2009

First report of SOX2 loss of function associated with a large hypothalamo-pituitary tumour; further insights into the role of SOX2 in pituitary development

Alatzoglou Kyriaki S , Arriazu Maria Cristina , Crolla John , Martinez-Barbera Juan Pedro , Roubicek Martin , Buchanan Charles , Dattani Mehul T

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Endocrine Abstracts

First report of a de novo heterozygous SOX2 deletion associated with a large hypothalamo-pituitary tumour gives further insights into the role of SOX2 in pituitary development.

First report of SOX2 loss of function associated with a large hypothalamo-pituitary tumour; further insights into the role of SOX2 in pituitary development

BiosciAbstracts