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Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a patient with overlapping features of Roifman Syndrome. These data...
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| Publicat a: | Clin Case Rep |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6230649/ https://ncbi.nlm.nih.gov/pubmed/30455926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1830 |
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