Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

Introduction: Silver–Russell syndrome (SRS) is an imprinting disorder primarily caused by genetic and epigenetic aberrations on chromosomes 11 and 7. SRS is a rare growth retardation disorder often misdiagnosed due to its heterogeneous and non-specific clinical features. The Netchine–Harbison clinic...

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Bibliographic Details
Main Authors: Milena Crippa, Maria Teresa Bonati, Luciano Calzari, Chiara Picinelli, Cristina Gervasini, Alessandra Sironi, Ilaria Bestetti, Sara Guzzetti, Simonetta Bellone, Angelo Selicorni, Alessandro Mussa, Andrea Riccio, Giovanni Battista Ferrero, Silvia Russo, Lidia Larizza, Palma Finelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Genetics
Subjects:
Silver–Russell syndrome
Netchine–Harbison clinical scoring system
array CGH
pathogenic CNVs
differential diagnosis
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00955/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00955/full

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