Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult...

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Veröffentlicht in:	Journal of medical genetics 2014-08, Vol.51 (8), p.495-501
Hauptverfasser:	Ioannides, Yiannis, Lokulo-Sodipe, Kemi, Mackay, Deborah J G, Davies, Justin H, Temple, I Karen
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Birth Weight Body Height Body Mass Index Body Weight Child Child, Preschool Chromosome Disorders - epidemiology Chromosome Disorders - genetics Chromosome Disorders - pathology Chromosomes, Human, Pair 14 - genetics Cohort Studies Female Hand - pathology Humans Infant Male Syndrome
Online-Zugang:	Volltext
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