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OR24-1 Structure-Function Analysis of Human OTX2 Variants Defines Required Region of C-Terminus for Pituitary, Eye, and Craniofacial Development
OTX2 is a homeobox transcription factor important for eye, craniofacial and midline development. Whole gene deletions and heterozygous mutations in OTX2 cause variable anomalies with incomplete penetrance, and most cases present with craniofacial / ocular abnormalities, and hypopituitarism, includin...
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| Publicado no: | J Endocr Soc |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Endocrine Society
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6554913/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR24-1 |
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