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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...
में बचाया:
| में प्रकाशित: | EMBO Mol Med |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
John Wiley and Sons Inc.
2020
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| विषय: | |
| ऑनलाइन पहुंच: | 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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