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EMX2, HESX1, Type I Schizencephaly, and Septo-Optic Dysplasia 

EMX2, HESX1, Type I Schizencephaly, and Septo-Optic Dysplasia
EMX2, HESX1, Type I Schizencephaly, and Septo-Optic Dysplasia

Daniel Kelberman

and Mehul T. Dattani

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date: 04 March 2021

The pituitary gland is a central regulator of growth, reproduction, and homeostasis. During embryogenesis, complex molecular pathways are established to define the development of the pituitary. Given the close anatomical and developmental relationship between the forebrain and anterior pituitary any aberration in this process will impinge not only on the development of the anterior pituitary, but also on the development of other structures, particularly other forebrain structures, the developing eye, and the cerebellum. This suggestion has been borne out by descriptions of the genetic basis of syndromes affecting the pituitary, such as septo-optic dysplasia (SOD). Elucidation of the molecular basis of disorders affecting solely the pituitary and syndromes in which the pituitary is but one component can lead to a better understanding of the complex genetic pathways that result in normal patterning of the forebrain and structures such as the anterior pituitary. This chapter describes the contribution of the HESX1 and EMX2 genes to this normal patterning and to the development of septooptic dysplasia (SOD) and schizencephaly respectively when they are disrupted.

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