Abstract
Human imprinting disorders can provide critical insights into the role of imprinted genes in human development and health, and the molecular mechanisms that regulate genomic imprinting. To illustrate these concepts we review the clinical and molecular features of several human imprinting syndromes including Beckwith Wiedemann syndrome, Silver Russell syndrome, Angelman syndrome, Prader Willi syndrome, pseudohypoparathyroidism, transient neonatal diabetes, familial complete hydatidiform moles and chromosome 14q32 imprinting domain disorders.
| Original language | English |
|---|---|
| Pages (from-to) | 347-369 |
| Number of pages | 23 |
| Journal | Epigenomics |
| Volume | 1 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 1 Dec 2009 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- genomic imprinting
- transient neonatal diabetes
- Beckwith-Wiedemann syndrome
- hydatidiform mole
- NLRP
- Prader Willi/Angelman syndrome
- uniparental disomy
- pseudohypoparathyroidism
- Silver Russell syndrome
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