SOX3 Deletion in Mouse and Human Is Associated With Persistence of the Craniopharyngeal Canal

Abstract excerpt

CONTEXT: SOX3 is an early developmental transcription factor involved in pituitary development. In humans, over- and underdosage of SOX3 is associated with X-linked hypopituitarism with variable phenotypes ranging from isolated GH deficiency (GHD) to panhypopituitarism, with or without mental retardation and, in most cases, with reported pituitary imaging, an ectopic/undescended posterior pituitary. PATIENT: We...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Syndromes and Imprinting
• Share to Growth Hormone and Insulin-like Growth Factors
• Share to Pituitary Gland Disorders and Treatments