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...

書誌詳細
主要な著者:	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
フォーマット:	Journal article
出版事項:	John Wiley and Sons, Ltd. 2019

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