Mutation in WDR4 impairs tRNA m(7)G(46) methylation and causes a distinct form of microcephalic primordial dwarfism

BACKGROUND: Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic heterogeneity. RESULTS: Two presumably unrelated consanguineous families presented with an apparently novel form of primordial dwarfism in which severe...

詳細記述

保存先:
書誌詳細
出版年:Genome Biol
主要な著者: Shaheen, Ranad, Abdel-Salam, Ghada M H, Guy, Michael P., Alomar, Rana, Abdel-Hamid, Mohamed S., Afifi, Hanan H., Ismail, Samira I., Emam, Bayoumi A., Phizicky, Eric M., Alkuraya, Fowzan S.
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2015
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4587777/
https://ncbi.nlm.nih.gov/pubmed/26416026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-015-0779-x
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