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Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era

9 Nov 2016

Abstract excerpt

The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of this disorder is valuable for predicting disease progression, avoiding unnecessary surgery, and family planning. We expect that the application of high throughput sequencing will uncover additional contributing genes and eventually...

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PMID: 27828722
DOI: 10.1210/er.2016-1101

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