NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.

Kaur, Maninder; Mehta, Devanshi; Noon, Sarah E; Deardorff, Matthew A; Zhang, Zhe; Krantz, Ian D

Kaur, Maninder; Mehta, Devanshi; Noon, Sarah E; Deardorff, Matthew A; Zhang, Zhe; Krantz, Ian D.

Am J Med Genet C Semin Med Genet ; 172(2): 163-70, 2016 06.

Article in En | MEDLINE | ID: mdl-27125329

Subject(s)

De Lange Syndrome/pathology; Proteins/genetics; Cell Cycle Proteins; De Lange Syndrome/diagnosis; De Lange Syndrome/genetics; Female; Gene Expression Regulation; Humans; Male; Mutation; Phenotype; Polymerase Chain Reaction; Proteins/analysis; Severity of Illness Index

Key words

Cornelia de Lange syndrome; NIPBL; cohesin; droplet digital PCR; gene expression

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Full text: 1 Database: MEDLINE Main subject: Proteins / De Lange Syndrome Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Am J Med Genet C Semin Med Genet Journal subject: GENETICA MEDICA Year: 2016 Type: Article

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