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2015 ; 7
(ä): 123
Nephropedia Template TP
gab.com Text
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English Wikipedia
Imprinting disorders: a group of congenital disorders with overlapping patterns
of molecular changes affecting imprinted loci
#MMPMID26583054
Eggermann T
; Perez de Nanclares G
; Maher ER
; Temple IK
; Tümer Z
; Monk D
; Mackay DJ
; Grønskov K
; Riccio A
; Linglart A
; Netchine I
Clin Epigenetics
2015[]; 7
(ä): 123
PMID26583054
show ga
Congenital imprinting disorders (IDs) are characterised by molecular changes
affecting imprinted chromosomal regions and genes, i.e. genes that are expressed
in a parent-of-origin specific manner. Recent years have seen a great expansion
in the range of alterations in regulation, dosage or DNA sequence shown to
disturb imprinted gene expression, and the correspondingly broad range of
resultant clinical syndromes. At the same time, however, it has become clear that
this diversity of IDs has common underlying principles, not only in shared
molecular mechanisms, but also in interrelated clinical impacts upon growth,
development and metabolism. Thus, detailed and systematic analysis of IDs can not
only identify unifying principles of molecular epigenetics in health and disease,
but also support personalisation of diagnosis and management for individual
patients and families.