Article
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.
The Journal of clinical endocrinology and metabolism - 1 Jan 2009
Tajima Toshihiro, Ohtake Akira, Hoshino Masaya, Amemiya Shin, Sasaki Nozomu, Ishizu Katsura, Fujieda Kenji
Abstract excerpt
CONTEXT: Orthodenticle homeobox 2 (OTX2) is a transcription factor necessary for ocular and forebrain development. In humans, heterozygous mutations of OTX2 cause severe ocular malformations. However, whether mutations of OTX2 cause pituitary structural abnormalities or combined pituitary hormone deficiency (CPHD) has not been clarified. OBJECTIVES: We surveyed the functional consequences of a novel OTX2 mutation...
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