Article

<i>ALX1</i> -related Frontonasal Dysplasia Results From Defective Neural Crest Cell Development and Migration

2020-06-13

Abstract excerpt

<h4>ABSTRACT</h4> A pedigree of subjects with frontonasal dysplasia (FND) presented with bilateral oblique facial clefts and ocular phenotypes. Genome sequencing and analysis identified a 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 differentiated to neural crest cells (NCC)....

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Literature Corpus work: 0e09165f-d266-5a3f-889f-7f7649e8a57b
DOI: 10.1101/2020.06.12.148262

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