Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non‐syndromic sagittal and metopic craniosynostosis

The RUNT‐related transcription factor RUNX2 plays a critical role in osteoblast differentiation, and alterations to gene dosage cause distinct craniofacial anomalies. Uniquely amongst the RUNT‐related family, vertebrate RUNX2 encodes a polyglutamine/polyalanine repeat (Gln23‐Glu‐Ala17 in humans), wi...

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Bibliografische gegevens
Hoofdauteurs: Walton, IS, McCann, E, Weber, A, Morton, JEV, Noons, P, Wilson, LC, Ching, RC, Cilliers, D, Johnson, D, Phipps, JM, Shears, DJ, Thomas, GPL, Wall, SA, Twigg, SRF, Wilkie, AOM
Formaat: Journal article
Taal:English
Gepubliceerd in: Wiley 2024