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Article

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.

The Journal of pediatrics - 1 Mar 2002

Resnick Igor B, Kondratenko Irina, Togoev Oleg, Vasserman Natalia, Shagina Irena, Evgrafov Oleg, Tverskaya Svetlana, Cerosaletti Karen M, Gatti Richard A, Concannon Patrick

Abstract excerpt

OBJECTIVE: The purpose of the study was to ascertain patients with Nijmegen breakage syndrome (NBS) in the Russian population and characterize the clinical phenotype and molecular genotype of these patients. STUDY DESIGN: Eight unrelated Russian patients with possible diagnoses of NBS were identified. Family histories were collected and clinical and laboratory analyses were carried out. Mutation screening of the...

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Identifiers

PMID: 11953735
DOI: 10.1067/mpd.2002.122724

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