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ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration
A pedigree of subjects presented with frontonasal dysplasia (FND). Genome sequencing and analysis identified a p.L165F missense variant in the homeodomain of the transcription factor ALX1 which was imputed to be pathogenic. Induced pluripotent stem cells (iPSC) were derived from the subjects and dif...
Autores principales: | Pini, Jonathan, Kueper, Janina, Hu, Yiyuan David, Kawasaki, Kenta, Yeung, Pan, Tsimbal, Casey, Yoon, Baul, Carmichael, Nikkola, Maas, Richard L, Cotney, Justin, Grinblat, Yevgenya, Liao, Eric C |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539331/ https://www.ncbi.nlm.nih.gov/pubmed/32914578 http://dx.doi.org/10.15252/emmm.202012013 |
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