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OR16-04 OTX2 Mutations in Congenital Hypopituitarism Patients

The transcription factor OTX2 is implicated in pituitary, ocular and craniofacial development. Mutations have been described in patients with variable congenital hypopituitarism (CH) ranging from isolated growth hormone deficiency (IGHD) to combined pituitary hormone deficiency (CPHD) with/without a...

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Detalles Bibliográficos
Autores principales: Gregory, Louise Cheryl, Gergics, Peter, Patti, Giuseppa, McCabe, Mark J, Maghnie, Mohamad, Spadoni, Emanuela, Camper, Sally A, Dattani, Mehul T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207633/
http://dx.doi.org/10.1210/jendso/bvaa046.1263