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Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis

Craniosynostosis (CS), the premature fusion of one or more cranial sutures, is a relatively common congenital anomaly, occurring in 3–5 per 10,000 live births. Nonsyndromic CS (NCS) accounts for up to 80% of all CS cases, yet the genetic factors contributing to the disorder remain largely unknown. T...

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Bibliografske podrobnosti
izdano v:Bone
Main Authors: Cuellar, Araceli, Bala, Krithi, Di Pietro, Lorena, Barba, Marta, Yagnik, Garima, Liu, Jia Lie, Stevens, Christina, Hur, David J., Ingersoll, Roxann G., Justice, Cristina M., Drissi, Hicham, Kim, Jinoh, Lattanzi, Wanda, Boyadjiev, Simeon A.
Format: Artigo
Jezik:Inglês
Izdano: 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7358991/
https://ncbi.nlm.nih.gov/pubmed/32360898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2020.115395
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