ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration

ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration

Abstract 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 subject...

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Main Authors: Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung, Casey Tsimbal, Baul Yoon, Nikkola Carmichael, Richard L Maas, Justin Cotney, Yevgenya Grinblat, Eric C Liao
Format: Article
Language:English
Published: Springer Nature 2020-09-01
Series:EMBO Molecular Medicine
Subjects:
ALX1
frontonasal dysplasia
iPSC
neural crest cells
zebrafish
Online Access:https://doi.org/10.15252/emmm.202012013
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https://doi.org/10.15252/emmm.202012013

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