Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans

Exome sequencing can interrogate thousands of genes simultaneously and it is becoming a first line diagnostic tool in genomic medicine. Herein, we applied trio clinical exome sequencing (CES) in a patient presenting with undiagnosed skeletal disorder, minor facial abnormalities, and kidney hypoplasi...

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Bibliografiska uppgifter
I publikationen:Front Genet
Huvudupphovsmän: Stajkovska, Aleksandra, Mehandziska, Sanja, Stavrevska, Margarita, Jakovleva, Kristina, Nikchevska, Natasha, Mitrev, Zan, Kungulovski, Ivan, Zafiroski, Gjorgje, Tasic, Velibor, Kungulovski, Goran
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2018
Ämnen:
Genetics
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5895704/
https://ncbi.nlm.nih.gov/pubmed/29675035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00113
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