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A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe. The causes of this anatomical defect include both genetic and environmental factors....
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Galenos Publishing
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291404/ https://www.ncbi.nlm.nih.gov/pubmed/31448886 http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0309 |