Article
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
American journal of human genetics - 7 Jan 2011
Klopocki Eva, Lohan Silke, Brancati Francesco, Koll Randi, Brehm Anja, Seemann Petra, Dathe Katarina, Stricker Sigmar, Hecht Jochen, Bosse Kristin, Betz Regina C, Garaci Francesco Giuseppe, Dallapiccola Bruno, Jain Mahim, Muenke Maximilian, Ng Vivian C W, Chan Wilson, Chan Danny, Mundlos Stefan
Abstract excerpt
Indian hedgehog (IHH) is a secreted signaling molecule of the hedgehog family known to play important roles in the regulation of chondrocyte differentiation, cortical bone formation, and the development of joints. Here, we describe that copy-number variations of the IHH locus involving conserved noncoding elements (CNEs) are associated with syndactyly and craniosynostosis. These CNEs are able to drive reporter...
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