Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primor...
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism
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England
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Language
English
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Publisher
England
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Contents
Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic heterogeneity.
Two presumably unrelated consanguineous families presented with an apparently novel form of primordial dwarfism in which severe growth deficiency is accompanied by distinct facial dysmorphism, bra...
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Full title
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism
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TN_cdi_proquest_miscellaneous_1718078565
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1718078565
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E-ISSN
1474-760X
DOI
10.1186/s13059-015-0779-x
