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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.

Robert MeyerMatthias BegemannChristian Thomas HübnerDaniela DeyAlma KuechlerMagdeldin ElgizouliUlrike ScharaLaima AmbrozaityteBirute BurnyteCarmen SchröderAsmaa KenawyPeter KroiselStephanie DemuthGyorgy FeketeThomas OpladenMiriam ElbrachtEggermann Thomas
Published in: Orphanet journal of rare diseases (2021)
WES approaches significantly increase the diagnostic yield in patients referred for SRS testing. Several of the identified monogenetic disorders have a major impact on clinical management and genetic counseling.
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