Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Beckwith–Wiedemann syndrome
Silver–Russell syndrome
genomic imprinting
imprinting disorders
uniparental disomy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
16 04 2021
16 04 2021
Historique:
received:
15
03
2021
revised:
26
03
2021
accepted:
26
03
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
13
8
2021
Statut:
epublish
Résumé
Molecular defects altering the expression of the imprinted genes of the 11p15.5 cluster are responsible for the etiology of two congenital disorders characterized by opposite growth disturbances, Silver-Russell syndrome (SRS), associated with growth restriction, and Beckwith-Wiedemann syndrome (BWS), associated with overgrowth. At the molecular level, SRS and BWS are characterized by defects of opposite sign, including loss (LoM) or gain (GoM) of methylation at the
Identifiants
pubmed: 33923683
pii: genes12040581
doi: 10.3390/genes12040581
pmc: PMC8073375
pii:
doi:
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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