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2012
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2015
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2014
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Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Not available
S-EPMC3397269
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biostudies-literature
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Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.
Not available
S-EPMC4271496
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biostudies-literature
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Redefining the MED13L syndrome.
Not available
S-EPMC4592099
|
biostudies-literature
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Update on Kleefstra Syndrome.
Not available
S-EPMC3366700
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biostudies-literature
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