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Two novel variants in the TCF12 gene identified in cases with craniosynostosis

Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated with the expression of CS. In this report, we des...

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Bibliografske podrobnosti
izdano v:Appl Clin Genet
Main Authors: Goumenos, Athanasios, Tsoutsou, Eirini, Traeger-Synodinos, Joanne, Petychakis, Dimitrios, Gavra, Maria, Kolialexi, Aggeliki, Frysira, Helena
Format: Artigo
Jezik:Inglês
Izdano: Dove Medical Press 2019
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6385741/
https://ncbi.nlm.nih.gov/pubmed/30858722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S190855
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