title: Human imprinting syndromes.
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.
authors: Birmingham Women's Hospital, Birmingham UK.
authors: Derek Hk
authors: DH
authors: Lim
authors: Eamonn R
authors: ER
authors: Maher
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D017204:Angelman Syndrome / Q000235:genetics / Q000473:pathology; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics / Q000473:pathology; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics / Q000473:pathology; D018392:Genomic Imprinting / Q000502:physiology*; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics; D005810:Multigene Family / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D011547:Pseudohypoparathyroidism / Q000235:genetics; D056730:Silver-Russell Syndrome / Q000235:genetics / Q000473:pathology; D024182:Uniparental Disomy / Q000235:genetics / Q000473:pathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C502448:NLRP7 protein, human