Article
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
Human mutation - 1 Jul 2003
Tessa Alessandra, Salvi Sergio, Casali Carlo, Garavelli Livia, Digilio M Cristina, Dotti M Teresa, Di Giandomenico Silvia, Valoppi Manuela, Grieco Gaetano S, Comanducci Giovanna, Bianchini Giacomo, Fortini Daniela, Federico Antonio, Giannotti Aldo, Santorelli Filippo M
Abstract excerpt
We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance. We identified ten heterozygous base changes in the RUNX2 gene, including six novel mutations [c.522insA, c.389G>A (W130X), c.662T>G (V221G), IVS2+T>A, c.1111_1129del19, and c.873_874delCA]. We did not establish a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.