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- W2556688220 abstract "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 become a valuable tool for molecular diagnosis. For example, in the last 3 years, six new genes have been implicated in CPHD using whole-exome sequencing. In this review, we present a historical perspective on gene discovery for CPHD and predict approaches that may facilitate future gene identification projects conducted by clinicians and basic scientists. Guidelines for systematic reporting of genetic variants and assigning causality are emerging. We apply these guidelines retrospectively to reports of the genetic basis of CPHD and summarize modes of inheritance and penetrance for each of the known genes. In recent years, there have been great improvements in databases of genetic information for diverse populations. Some issues remain that make molecular diagnosis challenging in some cases. These include the inherent genetic complexity of this disorder, technical challenges like uneven coverage, differing results from variant calling and interpretation pipelines, the number of tolerated genetic alterations, and imperfect methods for predicting pathogenicity. We discuss approaches for future research in the genetics of CPHD." @default.
- W2556688220 created "2016-11-30" @default.
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- W2556688220 date "2016-11-09" @default.
- W2556688220 modified "2023-10-18" @default.
- W2556688220 title "Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era" @default.
- W2556688220 cites W140950696 @default.
- W2556688220 cites W1491685093 @default.
- W2556688220 cites W1491802686 @default.
- W2556688220 cites W1492099467 @default.
- W2556688220 cites W1497882360 @default.
- W2556688220 cites W1511545125 @default.
- W2556688220 cites W1519512043 @default.
- W2556688220 cites W1530125964 @default.
- W2556688220 cites W1551776366 @default.
- W2556688220 cites W1556965444 @default.
- W2556688220 cites W1568054344 @default.
- W2556688220 cites W1572676861 @default.
- W2556688220 cites W1575983458 @default.
- W2556688220 cites W1580250799 @default.
- W2556688220 cites W1593263977 @default.
- W2556688220 cites W1601626202 @default.
- W2556688220 cites W1650584138 @default.
- W2556688220 cites W1701211704 @default.
- W2556688220 cites W1749057191 @default.
- W2556688220 cites W1763535345 @default.
- W2556688220 cites W1811961634 @default.
- W2556688220 cites W1812895422 @default.
- W2556688220 cites W1886835423 @default.
- W2556688220 cites W190767217 @default.
- W2556688220 cites W1912672559 @default.
- W2556688220 cites W1919748634 @default.
- W2556688220 cites W1953764490 @default.
- W2556688220 cites W1963506202 @default.
- W2556688220 cites W1964855590 @default.
- W2556688220 cites W1964964667 @default.
- W2556688220 cites W1965150063 @default.
- W2556688220 cites W1965423459 @default.
- W2556688220 cites W1965903798 @default.
- W2556688220 cites W1967546780 @default.
- W2556688220 cites W1969546891 @default.
- W2556688220 cites W1969776185 @default.
- W2556688220 cites W1970721119 @default.
- W2556688220 cites W1971338217 @default.
- W2556688220 cites W1972743299 @default.
- W2556688220 cites W1973561271 @default.
- W2556688220 cites W1974280015 @default.
- W2556688220 cites W1974634612 @default.
- W2556688220 cites W1974656134 @default.
- W2556688220 cites W1975261346 @default.
- W2556688220 cites W1975612258 @default.
- W2556688220 cites W1976022408 @default.
- W2556688220 cites W1977288855 @default.
- W2556688220 cites W1977291825 @default.
- W2556688220 cites W1977314451 @default.
- W2556688220 cites W1977437265 @default.
- W2556688220 cites W1977515912 @default.
- W2556688220 cites W1978286524 @default.
- W2556688220 cites W1979219368 @default.
- W2556688220 cites W1979895538 @default.
- W2556688220 cites W1979968319 @default.
- W2556688220 cites W1980913141 @default.
- W2556688220 cites W1981063714 @default.
- W2556688220 cites W1982235760 @default.
- W2556688220 cites W1982630660 @default.
- W2556688220 cites W1982957409 @default.
- W2556688220 cites W1987765672 @default.
- W2556688220 cites W1988295256 @default.
- W2556688220 cites W1988435392 @default.
- W2556688220 cites W1989920426 @default.
- W2556688220 cites W1990353555 @default.
- W2556688220 cites W1991671544 @default.
- W2556688220 cites W1992626409 @default.
- W2556688220 cites W1993085442 @default.
- W2556688220 cites W1994215160 @default.
- W2556688220 cites W1994452395 @default.
- W2556688220 cites W1995043936 @default.
- W2556688220 cites W1995760492 @default.
- W2556688220 cites W1995792221 @default.
- W2556688220 cites W1998565960 @default.
- W2556688220 cites W1998799810 @default.
- W2556688220 cites W1998890935 @default.
- W2556688220 cites W1999484058 @default.
- W2556688220 cites W2000672937 @default.
- W2556688220 cites W2001280003 @default.