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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230649/ https://www.ncbi.nlm.nih.gov/pubmed/30455926 http://dx.doi.org/10.1002/ccr3.1830 |