लोड हो रहा है...

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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:EMBO Mol Med
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley and Sons Inc. 2020
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
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!