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The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe phenotype tha...

詳細記述

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書誌詳細
出版年:Am J Med Genet A
主要な著者: Farach, Laura S., Little, Mary E., Duker, Angela L., Logan, Clare V., Jackson, Andrew, Hecht, Jaqueline T., Bober, Michael
フォーマット: Artigo
言語:Inglês
出版事項: 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6774248/
https://ncbi.nlm.nih.gov/pubmed/29265708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38581
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