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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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
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author Hallermayr, Ariane
Graf, Janine
Koehler, Udo
Laner, Andreas
Schönfeld, Brigitte
Benet‐Pagès, Anna
Holinski‐Feder, Elke
author_facet Hallermayr, Ariane
Graf, Janine
Koehler, Udo
Laner, Andreas
Schönfeld, Brigitte
Benet‐Pagès, Anna
Holinski‐Feder, Elke
author_sort Hallermayr, Ariane
collection PubMed
description 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 extend the spectrum of pathogenic variants in RNU4ATAC.
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spelling pubmed-62306492018-11-19 Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome Hallermayr, Ariane Graf, Janine Koehler, Udo Laner, Andreas Schönfeld, Brigitte Benet‐Pagès, Anna Holinski‐Feder, Elke Clin Case Rep Case Reports 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 extend the spectrum of pathogenic variants in RNU4ATAC. John Wiley and Sons Inc. 2018-10-11 /pmc/articles/PMC6230649/ /pubmed/30455926 http://dx.doi.org/10.1002/ccr3.1830 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Hallermayr, Ariane
Graf, Janine
Koehler, Udo
Laner, Andreas
Schönfeld, Brigitte
Benet‐Pagès, Anna
Holinski‐Feder, Elke
Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
title Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
title_full Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
title_fullStr Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
title_full_unstemmed Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
title_short Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
title_sort extending the critical regions for mutations in the non‐coding gene rnu4atac in another patient with roifman syndrome
topic Case Reports
url 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
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