Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

Abstract Background Whole‐exome sequencing (WES) has emerged as a successful diagnostic tool in molecular genetics laboratories worldwide. In this study, we aimed to find the potential genetic cause of skeletal disease, a heterogeneous disease, revealing the obvious short stature phenotype. In an Ir...

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Bibliographic Details
Main Authors: Ehsan Razmara, Homeyra Azimi, Amirreza Bitaraf, Mohammad Ali Daneshmand, Mohammad Galehdari, Maryam Dokhanchi, Elika Esmaeilzadeh‐Gharehdaghi, Masoud Garshasbi
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cathepsin K
nonsense variant
pycnodysostosis
rare disease
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1118

Internet

https://doi.org/10.1002/mgg3.1118

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