التفاصيل البيبلوغرافية
العنوان:
Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome
المؤلفون:
Elke Holinski-Feder , Janine Graf , Brigitte Schönfeld , Andreas Laner , Udo Koehler , Ariane Hallermayr , Anna Benet-Pagès
المصدر:
Clinical Case Reports
بيانات النشر:
Wiley, 2018.
سنة النشر:
2018
مصطلحات موضوعية:
0301 basic medicine , NR_023343.1:n.116A>C , Case Report , Nucleotide substitution , Case Reports , Compound heterozygosity , 03 medical and health sciences , 0302 clinical medicine , Critical regions , Medicine , RNU4ATAC gene , Nucleotide , Gene , Roifman Syndrome , Roifman syndrome , Genetics , chemistry.chemical_classification , NR_023343.1:n.13C>T , business.industry , RNU4ATAC , clinical exome sequencing , General Medicine , minor intron splicing , 030104 developmental biology , chemistry , snRNA U4atac , business , 030217 neurology & neurosurgery , Coding (social sciences)
الوصف:
Key Clinical Message 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.
تدمد:
2050-0904
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2bc486981ba76c51499c643ba1d996Test https://doi.org/10.1002/ccr3.1830Test
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....3e2bc486981ba76c51499c643ba1d996
قاعدة البيانات:
OpenAIRE
