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...

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Publicat a:EMBO Mol Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7539331/
https://ncbi.nlm.nih.gov/pubmed/32914578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.202012013
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