ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari‐1 malformation, speech and language delay, and learning difficulties and/or behaviora...
Main Authors: | Glass, G, O’Hara, J, Canham, N, Cilliers, D, Dunaway, D, Fenwick, A, Jeelani, N, Johnson, D, Lester, T, Lord, H, Morton, J, Nishikawa, H, Noons, P, Schwiebert, K, Shipster, C, Taylor-Beadling, A, Twigg, S, Vasudevan, P, Wall, S, Wilkie, A, Wilson, L |
---|---|
Formato: | Journal article |
Publicado: |
John Wiley and Sons, Ltd.
2019
|
Títulos similares
-
Development of Erf-mediated craniosynostosis and pharmacological amelioration
por: Vogiatzi, A, et al.
Publicado: (2023) -
Clinical genetics of craniosynostosis
por: Wilkie, A, et al.
Publicado: (2017) -
Craniosynostosis
por: Johnson, D, et al.
Publicado: (2011) -
Diagnostic value of exome and whole genome sequencing in craniosynostosis
por: Miller, K, et al.
Publicado: (2016) -
A genetic-pathophysiological framework for craniosynostosis
por: Twigg, S, et al.
Publicado: (2015)