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

8 May 2018

Abstract excerpt

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 screening. Mutations in the PROP1 gene are the most common known cause, and the frequency of mutations in this gene...

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PMID: 29739035
DOI: 10.1002/mgg3.395

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