Novel Genetic Diagnoses in Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of several transcription factors...

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Detalles Bibliográficos
Autores principales: Reis, Linda M., Seese, Sarah, Maheshwari, Mohit, Basel, Donald, Weik, LuAnn, McCarrier, Julie, Semina, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320703/
https://www.ncbi.nlm.nih.gov/pubmed/35885948
http://dx.doi.org/10.3390/genes13071165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320703/
https://www.ncbi.nlm.nih.gov/pubmed/35885948
http://dx.doi.org/10.3390/genes13071165

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