Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. We performed ge...

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Bibliografiske detaljer
Main Authors: Moffatt, Pierre, Ben Amor, Mouna, Glorieux, Francis H., Roschger, Paul, Klaushofer, Klaus, Schwartzentruber, Jeremy A., Paterson, Andrew D., Hu, Pingzhao, Marshall, Christian, Fahiminiya, Somayyeh, Majewski, Jacek, Beaulieu, Chandree L., Boycott, Kym M., Rauch, Frank
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2013
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3567275/
https://ncbi.nlm.nih.gov/pubmed/23290074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.12.001
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