Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

Meyer, Robert

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management. [electronic resource] - The Journal of pediatrics 08 2017 - 206-212.e1 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1097-6833

10.1016/j.jpeds.2017.04.018 doi


Adolescent
Child
Child, Preschool
Female
High-Throughput Nucleotide Sequencing--methods
Humans
Infant
Male
Mutation
Pedigree
Phenotype
Silver-Russell Syndrome--diagnosis