Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype

Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype

Abstract Background Silver–Russell syndrome (SRS) is a rare congenital growth disorder which is associated with molecular alterations affecting imprinted regions on chromosome 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat). In 11p15, imprinted regions contributing to the SRS pheno...

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Main Authors: Matthias Begemann, Anna Lengyel, Eva Pinti, Árpád Ferenc Kovács, György Fekete, Svea Stratmann, Jeremias Krause, Miriam Elbracht, Florian Kraft, Thomas Eggermann
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Clinical Epigenetics
Subjects:
Silver–Russell syndrome
Maternal uniparental disomy of chromosome 7
GRB10
MEST
Deletion
Online Access:https://doi.org/10.1186/s13148-025-01867-3
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https://doi.org/10.1186/s13148-025-01867-3

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