Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins

Bibliographic Details
Main Authors: Jessika Johannsen, Maja Hempel, Thilo Diehl, Tobias B. Haack, Jonas Denecke
Format: Article
Language:English
Published: Elsevier 2017-10-01
Series:Pediatrics and Neonatology
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957216303023