ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0019.1-9 | Genetics | ESPEYB19

1.9. Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in ROBO1

TS Woodring , MH Mirza , V Benavides , KA Ellsworth , MS Wright , MJ Javed , S. Ramiro

Pediatrics. 2021 Jul;148(1):e2020019000. doi: 10.1542/peds.2020-019000.Brief Summary: This case report of an infant with dysgenesis of the corpus callosum, whose whole genome sequencing (WGS) revealed variants of unknown significance (VUS) in ROBO1, demonstrates the potential of VUS in guiding clinical decisions.Next-generation sequencing (NGS) is increasingly...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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