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....

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Ziqin, Chen, Xiaobo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2020
Materias:
Case Report
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

Internet

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

Ejemplares similares