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...

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Опубликовано в: :Am J Med Genet A
Главные авторы: Glass, Graeme E., O'Hara, Justine, Canham, Natalie, Cilliers, Deirdre, Dunaway, David, Fenwick, Aimee L., Jeelani, Noor‐Owase, Johnson, David, Lester, Tracy, Lord, Helen, Morton, Jenny E. V., Nishikawa, Hiroshi, Noons, Peter, Schwiebert, Kemmy, Shipster, Caroleen, Taylor‐Beadling, Alison, Twigg, Stephen R. F., Vasudevan, Pradeep, Wall, Steven A., Wilkie, Andrew O. M., Wilson, Louise C.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley & Sons, Inc. 2019
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6491982/
https://ncbi.nlm.nih.gov/pubmed/30758909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61073
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