Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

Abstract Background Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple...

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Bibliographic Details
Main Authors: Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, Hanane Elouardi, Bouchra Chkirate, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani
Format: Article
Language:English
Published: BMC 2017-09-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Mucolipidosis III gamma
GNPTG
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12969-017-0200-2

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