HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

Abstract

CONTEXT Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis. OBJECTIVE Given that previous screening was carried out by SSCP detection alone and limited to coding regions, we performed an in-depth genetic analysis of HESX1… (More)

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Cite this paper

@article{McNay2007HESX1MA, title={HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.}, author={David E G McNay and James Turton and Daniel Kelberman and Kathryn S Woods and Raja Brauner and Anastasios Papadimitriou and Eberhard Keller and Alexandra Keller and Nele Haufs and Heiko Krude and Stephen Michael Shalet and Mehul Tulsidas Dattani}, journal={The Journal of clinical endocrinology and metabolism}, year={2007}, volume={92 2}, pages={691-7} }