11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?

Abstract Background Silver–Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms. The majority of patients shows a hypomethylation of the imprinting center region...

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Bibliographic Details
Main Authors: Asmaa K. Amin, Jeremias Krause, Thomas Eggermann
Format: Article
Language:English
Published: BMC 2024-03-01
Series:Molecular Cytogenetics
Subjects:
Online Access:https://doi.org/10.1186/s13039-024-00672-6