Whole exome sequencing diagnoses the first fetal case of Bainbridge‐Ropers syndrome presenting as pontocerebellar hypoplasia type 1
Birth Defects Research2018Vol. 110(6), pp. 538–542
Citations Over TimeTop 10% of 2018 papers
Séverine Bacrot, Charlotte Mechler, Naïma Talhi, Dominique Martin‐Coignard, Philippe Roth, Caroline Michot, Amale Ichkou, Olivier Alibeu, Patrick Nitschké, Sophie Thomas, Michel Vekemans, Ferechté Razavi, Lucile Boutaud, Tania Attié‐Bitach
Abstract
The fetopathological examination allowed to extend the phenotype to central nervous system and the genetic study highlights ASXL3 as a dominant gene responsible for PCH1 phenotype. Recognizing heterozygous ASXL3 mutation as a cause of prenatal PCH1 is essential for both large scale molecular analysis in the NGS era and genetic counseling.
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