Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

BACKGROUND: Congenital Hypopituitarism is caused by genetic and environmental factors. Over 30 genes have been implicated in isolated and/or combined pituitary hormone deficiency. The etiology remains unknown for up to 80% of the patients, but most cases have been analyzed by limited candidate gene...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Mol Genet Genomic Med
Main Authors: Pérez Millán, María I., Vishnopolska, Sebastian A., Daly, Alexandre Z., Bustamante, Juan P., Seilicovich, Adriana, Bergadá, Ignacio, Braslavsky, Débora, Keselman, Ana C., Lemons, Rosemary M., Mortensen, Amanda H., Marti, Marcelo A., Camper, Sally A., Kitzman, Jacob O.
פורמט: Artigo
שפה:Inglês
יצא לאור: John Wiley and Sons Inc. 2018
נושאים:
Original Articles
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081231/
https://ncbi.nlm.nih.gov/pubmed/29739035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.395
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