Article
The phenotypic spectrum associated with OTX2 mutations in humans.
European journal of endocrinology - 25 May 2021
Gregory Louise C, Gergics Peter, Nakaguma Marilena, Bando Hironori, Patti Giuseppa, McCabe Mark J, Fang Qing, Ma Qianyi, Ozel Ayse Bilge, Li Jun Z, Poina Michele Moreira, Jorge Alexander A L, Benedetti Anna F Figueredo, Lerario Antonio M, Arnhold Ivo J P, Mendonca Berenice B, Maghnie Mohamad, Camper Sally A, Carvalho Luciani R S, Dattani Mehul T
Abstract excerpt
Objective: The transcription factor OTX2 is implicated in ocular, craniofacial, and pituitary development. Design: We aimed to establish the contribution of OTX2 mutations in congenital hypopituitarism patients with/without eye abnormalities, study functional consequences, and establish OTX2 expression in the human brain, with a view to investigate the mechanism of action. Methods: We screened patients from the...
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