Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Abstract Background Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID). Methods Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly, motor delay, delayed speech and language...

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Bibliographic Details
Main Authors: Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
Neurodevelopmental disorders
De novo variants
Trio exome sequencing
Online Access:http://link.springer.com/article/10.1186/s11689-019-9270-4

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