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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
Autors principals: Hallermayr, Ariane, Graf, Janine, Koehler, Udo, Laner, Andreas, Schönfeld, Brigitte, Benet‐Pagès, Anna, Holinski‐Feder, Elke
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
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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