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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...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | 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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