Á lódáil...
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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| Foilsithe in: | EMBO Mol Med |
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| Main Authors: | , , , , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
John Wiley and Sons Inc.
2020
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| Ábhair: | |
| Rochtain Ar Líne: | 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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