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Article

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.

American journal of medical genetics. Part A - 1 Nov 2012

Eggermann Thomas, Begemann Matthias, Gogiel Magdalena, Palomares María, Vallespín Elena, Fernández Luis, Cazorla Rosario, Spengler Sabrina, García-Miñaúr Sixto

Abstract excerpt

Chromosomal duplications and deletions in 7p12.2 have been described in patients with growth disturbance phenotypes, that is, Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS). The region harbors the imprinted GRB10/Grb10 gene which has been postulated to belong to a major fetal growth pathway. Based on its genomic localization, its physiological function and its imprinting status, GRB10/Grb10 was...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22987336
DOI: 10.1002/ajmg.a.35612

Genes

GRB10

Provenance

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