Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations

TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre–Chotzen syndrome. TCF1...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: di Rocco, Federico, Baujat, Geneviève, Arnaud, Eric, Rénier, Dominique, Laplanche, Jean-Louis, Daire, Valérie Cormier, Collet, Corinne
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2014
Teme:
Short Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4231413/
https://ncbi.nlm.nih.gov/pubmed/24736737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.57
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