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

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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Bibliographic Details
Main Authors: Aleksandra Stajkovska, Sanja Mehandziska, Margarita Stavrevska, Kristina Jakovleva, Natasha Nikchevska, Zan Mitrev, Ivan Kungulovski, Gjorgje Zafiroski, Velibor Tasic, Goran Kungulovski
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-04-01
Series:Frontiers in Genetics
Subjects:
next-generation sequencing
exome sequencing
case report
multicentric carpotarsal osteolysis syndrome
Balkan
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00113/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2018.00113/full

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