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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Am J Med Genet A
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2019
Fag:
Original Articles
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker