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...
Main Authors: | Aleksandra Stajkovska, Sanja Mehandziska, Margarita Stavrevska, Kristina Jakovleva, Natasha Nikchevska, Zan Mitrev, Ivan Kungulovski, Gjorgje Zafiroski, Velibor Tasic, Goran Kungulovski |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2018-04-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | http://journal.frontiersin.org/article/10.3389/fgene.2018.00113/full |
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