Article
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia.
Journal of medical genetics - 1 Jul 2012
Ott Claus Eric, Hein Hendrikje, Lohan Silke, Hoogeboom Jeannette, Foulds Nicola, Grünhagen Johannes, Stricker Sigmar, Villavicencio-Lorini Pablo, Klopocki Eva, Mundlos Stefan
Abstract excerpt
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterised by hypoplastic or absent clavicles, increased head circumference, large fontanels, dental anomalies and short stature. Although CCD is usually caused by mutations leading to haploinsufficiency of RUNX2, the underlying genetic cause remains unresolved in about 25% of cases. METHODS: Array comparative genomic...
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