Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints.

Eggermann, Thomas; Spengler, Sabrina; Gamerdinger, Ulrike; Denecke, Bernd; Grimm, Silke; Grimm, Manfred; Schubert, Regine; Schwanitz, Gesa

Eggermann, Thomas; Spengler, Sabrina; Gamerdinger, Ulrike; Denecke, Bernd; Grimm, Silke; Grimm, Manfred; Schubert, Regine; Schwanitz, Gesa.

Afiliación

Eggermann T; Institute of Human Genetics, Rheinisch-Westfälische Technische Hochschule, Aachen, Germany.
Spengler S; Institute of Human Genetics, Rheinisch-Westfälische Technische Hochschule, Aachen, Germany.
Gamerdinger U; Institute of Pathology, University Medical Centre of Giessen and Marburg, Giessen, Germany.
Denecke B; Interdisciplinary Centre for Clinical Research, IZKF "BIOMAT", Rheinisch-Westfälische Technische Hochschule, Aachen, Germany.
Grimm S; Institute of Human Genetics, University of Bonn, Bonn, Germany.
Grimm M; Institute of Human Genetics, University of Bonn, Bonn, Germany.
Schubert R; Praxis für Humangenetik, Köln, Germany.
Schwanitz G; Institute of Human Genetics, University of Bonn, Bonn, Germany.

J Pediatr Genet ; 1(2): 143-7, 2012 Jun.

Article en En | MEDLINE | ID: mdl-27625815

Palabras clave

Duplication 3q13.11q23; de novo; developmental differences; longitudinal studies; phenotype specification

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Observational_studies Idioma: En Revista: J Pediatr Genet Año: 2012 Tipo del documento: Article País de afiliación: Alemania

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