Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1

Séverine Bacrot, Charlotte Mechler, Naima Talhi, Dominique Martin-Coignard, Philippe Roth, Caroline Michot, Amale Ichkou, Olivier Alibeu, Patrick Nitschke, Sophie Thomas, Michel Vekemans, Férechté Razavi, Lucile Boutaud, Tania Attie-Bitach
  • Birth Defects Research, January 2018, Wiley
  • DOI: 10.1002/bdr2.1191

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