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Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome.

ABSTRACT: The first known documented case of monochorionic-diamniotic twins with Coffin-Siris syndrome is described in this study. This case is notable because of the phenotypic differences between infants despite having identical genomes and causative variants. Also unique to this case is the clinical influence of early diagnosis using precision medicine techniques.

SUBMITTER: LaBrecque B 

PROVIDER: S-EPMC6824890 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome.

LaBrecque Brett B   Contreras Marioxy M   Giordano Jessica J   Parravicini Elvira E  

Journal of pediatric genetics 20190420 4

The first known documented case of monochorionic-diamniotic twins with Coffin-Siris syndrome is described in this study. This case is notable because of the phenotypic differences between infants despite having identical genomes and causative variants. Also unique to this case is the clinical influence of early diagnosis using precision medicine techniques. ...[more]

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