Apert's syndrome: Study by whole exome sequencing

Apert's syndrome: Study by whole exome sequencing

In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR...

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Bibliographic Details
Main Authors: Anjana Munshi, Preeti Khetarpal, Satrupa Das, Venkateshwar Rao, Monica Valecha, Manita Bansal, Roshan Kumar
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2018-06-01
Series:Genes and Diseases
Online Access:http://www.sciencedirect.com/science/article/pii/S2352304217300478

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http://www.sciencedirect.com/science/article/pii/S2352304217300478

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