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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hallermayr, Ariane, Graf, Janine, Koehler, Udo, Laner, Andreas, Schönfeld, Brigitte, Benet‐Pagès, Anna, Holinski‐Feder, Elke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
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

Internet

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

Ejemplares similares