Human imprinting syndromes.
Epigenomics
; 1(2): 347-69, 2009 Dec.
Article
em En
| MEDLINE
| ID: mdl-22122706
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 6
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Cromossomos Humanos Par 11
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Cromossomos Humanos Par 14
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Cromossomos Humanos Par 15
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Cromossomos Humanos Par 20
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Impressão Genômica
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Transtornos Cromossômicos
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article