The phenotypic spectrum associated with OTX2 mutations in humans

OBJECTIVE: The transcription factor OTX2is 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 expressi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437083/
https://www.ncbi.nlm.nih.gov/pubmed/33950863
http://dx.doi.org/10.1530/EJE-20-1453

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